Anlage zur Akkreditierungsurkunde D-ML-13317-01-00 · TAK Serum, Plasma ECLIA Untersuchungsart:...

Anlage zur Akkreditierungsurkunde D-ML-13317-01-00

nach DIN EN ISO 15189:2014

Gültigkeitsdauer: 08.08.2018 bis 07.08.2023 Ausstellungsdatum: 08.08.2018

Urkundeninhaber:

Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)

Dr. Klein, Dr. Rost und Kollegen

Lochhamer Str. 29, 82152 Martinsried

Untersuchungen im Bereich:

Medizinische Laboratoriumsdiagnostik

Untersuchungsgebiete:

Klinische Chemie

Immunologie

Humangenetik (Molekulare Humangenetik, Zytogenetik)

Virologie

Transfusionsmedizin

Innerhalb der mit * gekennzeichneten Untersuchungsbereiche ist dem Laboratorium, ohne dass es einer vorherigen Information

und Zustimmung der Deutschen Akkreditierungsstelle GmbH bedarf, die freie Auswahl von genormten oder ihnen

gleichzusetzenden Untersuchungsverfahren gestattet.

Innerhalb der mit ** gekennzeichneten Untersuchungsbereiche ist dem Laboratorium, ohne dass es einer vorherigen Information

und Zustimmung der Deutschen Akkreditierungsstelle GmbH bedarf, die Modifizierung sowie Weiter- und Neuentwicklung von

Untersuchungsverfahren gestattet.

Die aufgeführten Untersuchungsverfahren sind beispielhaft. Das Laboratorium verfügt über eine aktuelle Liste aller

Untersuchungsverfahren im flexiblen Akkreditierungsbereich.

Mikrobiologie

Deutsche Akkreditierungsstelle GmbH

Seite 1 von 213


Untersuchungsgebiet: Klinische Chemie

Untersuchungsart: Chromatographie (Flüssigkeitschromatographie (LC-MS))**

Analyt (Messgröße) Untersuchungsmaterial (Matrix) Untersuchungstechnik

Homocystein Natriumfluorid-Plasma LC-MS-MS

Untersuchungsart: Chromatographie (Hochleistungsflüssigkeitschromatographie (HPLC))


HB-Varianten EDTA-Blut, Nabelschnurblut HPLC-DAD

Untersuchungsart:Durchflusszytometrie (Partikeleigenschaftsbestimmungen)*


Kleines Blutbild EDTA-Blut Partikelzählung,

Partikelgrößenbestimmung,

Bestimmung zytochemisch-

zytometrischer Merkmale

Großes Blutbild EDTA-Blut Partikelzählung,

Partikelgrößenbestimmung,

Bestimmung zytochemisch-


Retikulozyten EDTA-Blut Bestimmung zytochemisch-


Untersuchungsart:Elektrophorese*


Serumeiweiß Serum Kapillarelektrophorese

Monoklonale Gammopathie Serum Kapillarelektrophorese

ACHE Fruchtwasser Elektrophorese

Untersuchungsart:Elektrochemische Untersuchungen*


Natrium Serum, Plasma ISE

Kalium Serum, Plasma ISE

Chlorid Serum, Plasma ISE

Gültigkeitsdauer: 08.08.2018 bis 07.08.2023 Ausstellungsdatum: 08.08.2018 Seite 2 von 213


Untersuchungsart:Koagulometrie*


Antithrombin III Citratplasma optische Detektionsverfahren

APC-Resistenz Citratplasma optische Detektionsverfahren

D-Dimer Citratplasma optische Detektionsverfahren

Faktor 12 Citratplasma optische Detektionsverfahren

Fibrinogen Citratplasma optische Detektionsverfahren

INR Citratplasma optische Detektionsverfahren

Lupus Antikoagulans Citratplasma optische Detektionsverfahren

Protein C Citratplasma optische Detektionsverfahren

Protein S Citratplasma optische Detektionsverfahren

Thromboplastinzeit Citratplasma optische Detektionsverfahren

Partielle Thromboplastinzeit Citratplasma optische Detektionsverfahren

Untersuchungsart:Ligandenassays*


AFP Fruchtwasser Immunometrie (CLIA)

Freies Beta-HCG Serum Immunometrie (CLIA)

PAPP-A Serum Immunometrie (CLIA)

sFIt I Serum, Plasma Immunometrie (CLIA)

PIGF Serum, Plasma Immunometrie (CLIA)

AFP Serum, Plasma ECLIA

CA 125 Serum, Plasma ECLIA

CA 15-3 Serum, Plasma ECLIA

CA 19-9 Serum, Plasma ECLIA

CEA Serum, Plasma ECLIA

Cortisol Serum, Plasma ECLIA

DHEA-S Serum, Plasma ECLIA

Folsäure Serum, Plasma ECLIA

FSH Serum, Plasma ECLIA

FT3 Serum, Plasma ECLIA

FT4 Serum, Plasma ECLIA




Beta-HCG Serum, Plasma ECLIA

LH Serum, Plasma ECLIA

Östradiol Serum, Plasma ECLIA

Progesteron Serum, Plasma ECLIA

Prolaktin Serum, Plasma ECLIA

PSA Serum, Plasma ECLIA

SHBG Serum, Plasma ECLIA

Testosteron Serum, Plasma ECLIA

Troponin T Serum, Plasma ECLIA

TSH Serum, Plasma ECLIA

Vitamin B12 Serum, Plasma ECLIA

Vitamin D Serum, Plasma ECLIA

Untersuchungsart:Mikroskopie*


atypische Lymphozten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Basophile Granulozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Blasten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Eosinophile Granulozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Kernschatten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Lymphozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Metamyelozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Monozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Morphologie Erythrozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Morphologie Leukozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Morphologie Thrombozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Myelozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Normoblasten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Plasmazellen Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen




Promyelozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Segmentkernige Granulozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Stabkernige Granulozyten Vollblut Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Bakterien Urin, Urinsediment Hellfeldmikroskopie

Erythrozyten Urin, Urinsediment Hellfeldmikroskopie

Erythrozytenzylinder Urin, Urinsediment Hellfeldmikroskopie

Granulierte Zylinder Urin, Urinsediment Hellfeldmikroskopie

Hyaline Zylinder Urin, Urinsediment Hellfeldmikroskopie

Leukozyten Urin, Urinsediment Hellfeldmikroskopie

Leukozytenzylinder Urin, Urinsediment Hellfeldmikroskopie

Pilze Urin, Urinsediment Hellfeldmikroskopie

Plattenepithelien Urin, Urinsediment Hellfeldmikroskopie

Rundepithelien Urin, Urinsediment Hellfeldmikroskopie

Übergangsepithelien Urin, Urinsediment Hellfeldmikroskopie

Wachszylinder Urin, Urinsediment Hellfeldmikroskopie

Untersuchungsart:Qualitative Untersuchungen (einfache) mit visueller Auswertung*


Bilirubin Urin Teststreifen

Glucose Urin Teststreifen

Hämoglobin/Erythrozyten Urin Teststreifen

Ketone Urin Teststreifen

Leukozyten Urin Teststreifen

Nitrit Urin Teststreifen

pH Urin Teststreifen

Proteine Urin Teststreifen

Urobilinogen Urin Teststreifen

Untersuchungsart:Spektrometrie (Turbidimetrie)*


alpha 1 Antitrypsin Serum, Plasma Turbidimetrie

Beta-2-Mikroglobulin Serum, Plasma Turbidimetrie

C-reaktives Protein Serum, Plasma Turbidimetrie

Coeruloplasmin Serum, Plasma Turbidimetrie

Ferritin Serum, Plasma Turbidimetrie




Haptoglobin Serum, Plasma Turbidimetrie

HbA1c EDTA-Blut Turbidimetrie

Transferrin Serum, Plasma Turbidimetrie

Untersuchungsart:Spektrometrie (Absorptionsspektrometrie / Photometrie)*


Albumin Serum, Plasma Photometrie

Alkalische Phosphatase Serum, Plasma Photometrie

Amylase Serum, Plasma Photometrie

Bilirubin, direkt Serum, Plasma Photometrie

Bilirubin, gesamt Serum, Plasma Photometrie

Calcium Serum, Plasma Photometrie

CHE Serum, Plasma Photometrie

Cholesterin Serum, Plasma Photometrie

CK Serum, Plasma Photometrie

CK-MB Serum, Plasma Photometrie

Eisen Serum, Plasma Photometrie

Eiweiß, gesamt Serum, Plasma Photometrie

Eiweiß Urin Photometrie

Gallensäure Serum, Plasma Photometrie

GGT Serum, Plasma Photometrie

GOT (AST) Serum, Plasma Photometrie

GPT (ALT) Serum, Plasma Photometrie

Glucose Serum, Plasma, Hämolysat Photometrie

Harnsäure Serum, Plasma Photometrie

Harnstoff Serum, Plasma Photometrie

HDL Cholesterin Serum, Plasma Photometrie

Kreatinin Serum, Plasma, Urin Photometrie

LDH Serum, Plasma Photometrie

LDL Serum, Plasma Photometrie

Lipase Serum, Plasma Photometrie

Magnesium Serum, Plasma Photometrie

Phosphat Serum, Plasma Photometrie

Triglyceride Serum, Plasma Photometrie



Untersuchungsgebiet: Immunologie

Untersuchungsart:Durchflusszytometrie**


Lymphozytentypisierung CPDA1-Blut, EDTA-Blut Durchflusszytometrie

CD34-Stammzellmessung Nabelschnurblut, EDTA-Blut,

Aphareseprodukte

Durchflusszytometrie

Untersuchungsart:Ligandenassays*


Antigen der Mikrosomenfraktion aus

Leber und Niere (LKM-1)

Serum, EDTA-, Heparin- oder Citrat-

Plasma

Immunoblot (Teststreifen)

Antikörper gegen Gliadin (IgA) Vollblut-Serum, Plasma ELISA

Antikörper gegen Gliadin (IgG) Vollblut-Serum, Plasma ELISA

Antimitochondriale Antikörper gegen

den Pyruvatdehydrogenase Komplex

(AMA-M2)


Plasma


Autoantikörper gegen

Annexin V (IgM)

Vollblut-Serum, Plasma ELISA


Cardiolipin (Ig G)



Cardiolipin (Ig M)



Schilddrüsen-Peroxidase (MAK)



Thyreoglobulin (TAK)



β-2 –Glykoprotein (Ig G, A, M)


Autoantikörper gegen Annexin V (IgG) Vollblut-Serum, Plasma ELISA

Autoantikörper gegen ENA Vollblut-Serum, Plasma ELISA


Gewebstransglutaminase (IgA)



Gewebstransglutaminase (IgG)


Autoantikörper gegen dDNS Vollblut-Serum, Plasma ELISA




Cytosolisches Leber-Antigen Typ 1 (LC-

1)


Plasma


Fusionsprotein der E2-Untereinheiten

der alpha-Ketosäure-Dehydrogenasen

der inneren Mitochondrienmembran

(M2-3E(BPO))


Plasma


Lösliches Leber-Antigen/Leber-

Pankreas Antigen (SLA/LP)


Plasma


MAK Serum, Plasma ECLIA

TAK Serum, Plasma ECLIA

Untersuchungsart: Mikroskopie*


Autoantikörper gegen Zellkerne (ANA) Vollblut-Serum, Plasma Indirekte

Immunfluoreszenzmikroskopie

Autoantikörper gegen dDNS Vollblut-Serum, Plasma Indirekte


Autoantikörper gegen Ovar Vollblut-Serum, Plasma Indirekte


Antimitochondriale Antikörper (AMA) Vollblut-Serum, Plasma Indirekte


Antineutrophile cytoplasmatische

Antikörper (ANCA)

Vollblut-Serum, Plasma Indirekte


Antikörper gegen glatte Muskulatur

(ASMA)



Antigen der Mikrosomenfraktion aus

Leber und Niere (LKM-1)



Untersuchungsart:Spektrometrie (Turbidimetrie)*


freie Leichtketten Kappa Serum, Plasma Turbidimetrie

freie Leichtketten Lambda Serum, Plasma Turbidimetrie

Ig A Serum, Plasma Turbidimetrie

Ig G Serum, Plasma Turbidimetrie

IgM Serum, Plasma Turbidimetrie

Rheumafaktor Serum, Plasma Turbidimetrie



Untersuchungsgebiet: Humangenetik (Zytogenetik)

Untersuchungsart:Chromosomenanalyse**


Chromosomenanalyse Peripheres Blut, Fruchtwasser,

Chorionzotten, Abortgewebe,

Nabelschnurblut, Haut,

Knochenmark

Karyotypisierung, Färbungen,

Zellkultur, Mosaikausschluss,

Vielfarbenkaryotypisierung

Nachweis spezifischer chromosomaler

Regionen

Peripheres Blut, Fruchtwasser,

Chorionzotten, Abortgewebe,

Nabelschnurblut, Haut, Knochenmark

Fluoreszenz in situ Hybridisierung

(FISH): Pränataler Schnelltest,

Mikrodeletionsdiagnostik,

Chromosomenpainting,

Subtelomeranalysen, Interphase-

Untersuchungen

Chronisch myeloische

Leukämie

Blut, Knochenmark FISH und Chromosomenanalyse

Myelodysplastisches Syndrom Blut, Knochenmark FISH und Chromosomenanalyse

Myeloproliferative Neoplasien Blut, Knochenmark FISH und Chromosomenanalyse

Chronisch Lymphatische Leukämie Blut, Knochenmark FISH und Chromosomenanalyse

Akute Lymphatische Leukämie Blut, Knochenmark FISH und Chromosomenanalyse

Akute Myeloische Leukämie Blut, Knochenmark FISH und Chromosomenanalyse

Indolente B-Zell-Lymphome Blut, Knochenmark FISH und Chromosomenanalyse

Chronische myelomonozytäre

Leukämie


Myeloische und lymphatische

Neoplasien mit Eosinophilie und

PDGFRA-, PDGFRB-, FGFR1- oder

PCM1-JAK2-Rearrangement


Monoklonale Gammopathie,

Plasmozytom, MGUS


Immunozytom, Morbus Waldenström Blut, Knochenmark FISH und Chromosomenanalyse

Array-CGH Genomische DNA Array basierte CGH



Untersuchungsgebiet: Humangenetik (Molekulare Humangenetik)

Untersuchungsart:Molekularbiologische Untersuchungen (Amplifikations- und Hybridisierungsverfahren)**

Indikation und Analyt

(Gen/e, Variante/n)Untersuchungsmaterial (Matrix) Untersuchungstechnik

ABCB1 (MDR1) (dbSNP rs1045642) EDTA-Blut, DNA aus Blut PCR, Restriktionsanalyse

Alkohol-Intoleranz

(ADH2-Gen:dbSNP rs1229984, ALDH2-

Gen:dbSNP rs671)

EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

Alpha-1-Antitrypsin-Mangel

(SERPINA1-Gen:dbSNP rs17580,

rs28929474)

EDTA-Blut, DNA aus Blut Fluoreszenz-markierte

Hybridisierungssonden (Real-time

PCR)

Alzheimer Erkrankung, Spätform

(AD2) (APOE-Gen: dbSNP rs429358,

rs7412)



PCR)

Apolipoprotein B-Defizienz (FLDB)

(APOB-Gen: dbSNP rs12713559)

EDTA-Blut, DNA aus Blut PCR, Restriktionsanalyse


(APOB-Gen: dbSNP rs5742904)



PCR)

Azoospermie (AZF-Mikrodeletionen) EDTA-Blut, DNA aus Blut PCR, Agarosegelelektrophorese

COMT (dbSNP rs4680) EDTA-Blut, DNA aus Blut PCR, Restriktionsanalyse

Creutzfeldt-Jakob (sporadische Form |

neue Variante) (PRNP-Gen: dbSNP

rs1799990)


Crouzon-Syndrom mit Acanthosis

nigricans (FGFR3-Gen:

NM_000142.4:c.1172C>A)


CYP1A1 (dbSNP rs4646903,

rs1048943)


CYP2B6 (dbSNP rs3745274) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

CYP2C19 (dbSNP rs12248560) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

CYP2C19 (dbSNP rs4244285,

rs4986893)



PCR)


rs10509681)



rs1057910)



PCR)

CYP3A5 (dbSNP rs776746) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung





DPD (dbSNP rs3918290) EDTA-Blut, DNA aus Blut PCR, Restriktionsanalyse

Dysbetalipoproteinämie, Typ III-

Hyperlipidämie (APOE-Gen: dbSNP

rs429358, rs7412)



PCR)

GSTM1 (Null-Allel) EDTA-Blut, DNA aus Blut PCR, Agarosegelelektrophorese

GSTP1 (dbSNP rs1695) EDTA-Blut, DNA aus Blut PCR, Restriktionsanalyse

GSTT1 (Null-Allel) EDTA-Blut, DNA aus Blut PCR, Agarosegelelektrophorese

Hämochromatose (HFE-Gen: dbSNP

rs1800562, rs1799945, rs1800730)



PCR)

HCV-Therapie IL28B (dbSNP

rs12979860)



PCR)

HCV-Therapie ITPA (dbSNP

rs1127354, rs7270101)


HIV-1-Wirtsresistenz (CCR5-Gen:

dbSNP rs333, CCR2-Gen: dbSNP

rs1799864, SDF1-Gen: dbSNP

rs1801157)


Hörverlust, rezessiv (GJB6-Gen

(Deletion D13S1830))

EDTA-Blut, DNA aus Blut PCR, Agarosegelelektrophorese

IL4R (dbSNP rs1805010) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

Laktoseintoleranz (LCT-Gen: dbSNP

rs182549)



PCR)

Makuladegeneration, altersbedingt

(ARMD4) (CFH-Gen: dbSNP

rs1061170)


Makuladegeneration, altersbedingt

(ARMD7) (HTRA1-Gen: dbSNP

rs11200638)


Methylentetrahydrofolatreduktase-

(MTHFR-) Defizienz (MTHFR-Gen:

dbSNP rs1801133, rs1801131)



PCR)

Meulengracht- (Gilbert-) Syndrom

(UGT1A1-Gen: dbSNP rs3064744)


Morbus Crohn (NOD2-Gen: dbSNP

rs2066844, rs2066845, rs2066847)


Muenke-Syndrom (FGFR3-Gen:

NM_000142.4:c.749C>G)






Osteoporose,

postmenopausale Form

(COL1A1-Gen: dbSNP rs1800012)


Ovarielles

Hyperstimulationssyndrom (OHSS)

(FSHR-Gen: dbSNP rs6166)


Sichelzellanämie (SA) (HBB-Gen:

NM_000518.4:c.20A>T)


SLCO1B1 (dbSNP rs4149056) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

SULT1A1 (dbSNP rs9282861) EDTA-Blut, DNA aus Blut PCR, Restriktionsanalyse

Thrombophilie (F5-Gen: dbSNP

rs6025, F2-Gen: dbSNP rs1799963)



PCR)

TNF-α-Promotor (dbSNP rs361525,

rs1800629, rs1800750, rs1799724,

rs1800630, rs1799964)


VKORC1 (dbSNP rs9934438,

rs28527768)




Abetalipoproteinämie (MTTP-Gen

[OMIM #157147])


Achondrogenesie Typ 2 (Langer-

Saldino) (COL2A1-Gen [OMIM

#120140])


Achondroplasie (ACH) (FGFR3-Gen

[OMIM #134934])


Adams-Oliver Syndrom Typ 5

(NOTCH1-Gen [OMIM #190198])


Adrenogenitales Syndrom (AGS)

(CYP21A2-Gen [OMIM #613815])


Agammaglobulinämie Bruton (XLA)

(BTK-Gen [OMIM #300300])


Ahornsiruperkrankung (MSUD)

(BCKDHA-Gen [OMIM #608348])


Ahornsiruperkrankung (MSUD)

(BCKDHB-Gen [OMIM #248611])


Ahornsiruperkrankung Typ 2 (DBT-

Gen [OMIM #248610])


Mutationsanalyse bei heterogenem Spektrum krankheitsursächlicher Varianten





Akromikrische Dysplasie (ACMICD)

(FBN1-Gen [OMIM #134797])


Akute hepatische Porphyrie (ALA-

Dehydratase-Defizienz) (ALAD-Gen

[OMIM #125270])


Akute intermittierende Porphyrie

(HMBS-Gen [OMIM #609806])


Alopezie (Atrichia mit papulären

Läsionen, APL) (HR-Gen [OMIM

#602302])


Alpha-1-Antitrypsin-Mangel

(SERPINA1-Gen [OMIM #613490])


Alpha-Thalassämie-X-

chromosomale

Intelligenzminderung-Syndrom

(ATRX-Gen [OMIM #300032])


Alpha-Tubulinopathie - Lissenzephalie

3 (TUBA1A-Gen

[OMIM #602529])


Alport Syndrom, autosomal dominant

(COL4A3-Gen

[OMIM #120070])


Alport Syndrom, autosomal rezessiv

(COL4A3-Gen [OMIM #120070])


Alport Syndrom, autosomal rezessiv



Alport Syndrom, X-linked (COL4A5-

Gen [OMIM #303630])


Alport-Syndrom (ATS) (COL4A5-Gen

[OMIM #303630])


Alport-Syndrom Phänotyp (MYH9-Gen

[OMIM #160775])


Alzheimer Erkrankung, Spätform

(APOE-Gen [OMIM #107741])


Amyloidose, familiäre Form (TTR-Gen

[OMIM #176300])


Andersen-Tawil-Syndrom (KCNJ2-Gen

[OMIM #600681])


Androgeninsensitivität (AIS) (AR-Gen

[OMIM #313700])






Aneurysmen Osteoarthritis Syndrom

(AOS) (SMAD3-Gen

[OMIM #603109])


Angelman-Syndrom (UBE3A-Gen

[OMIM #601623])

EDTA-Blut, DNA aus Blut Methylierungsspez. PCR nach

Bisulfitbehandlung, PCR, Sanger-

Sequenzierung

Antley-Bixler-Syndrom ohne

Genitalanomalien oder

Steroidsynthesestörungen (FGFR2-

Gen [OMIM #176943])


Aortenaneurysma thorakal, familiär, 8

(AAT8)

(PRKG1-Gen [OMIM #176894])


Aortendissektion, familiäre thorakaler

Typ 3 (FAA3) (TGFBR2-Gen [OMIM

#190182])



Typ 4 (FAA4) (MYH11-Gen [OMIM

#160745])



Typ 5 (FAA5) (TGFBR1-Gen [OMIM

#190181])



Typ 6 (FAA6) (ACTA2-Gen [OMIM

#102620])



Typ 7 (AAT7) (MYLK-Gen [OMIM

#600922])


Apert-Syndrom (FGFR2-Gen [OMIM

#176943])


Apolipoprotein A-I-Defizienz (APOA1-

Gen [OMIM #107680])


Apolipoprotein A-V-Defizienz (APOA5-

Gen [OMIM #606368])



(APOB-Gen [OMIM #107730])


Apolipoprotein C-II-Defizienz (Typ I-

Hyperlipidämie) (APOC2-Gen [OMIM

#608083])


Arterial Tortuosity Syndrom (ATS)

(SLC2A10-Gen [OMIM #606145])






ARVD (LMNA-Gen [OMIM #150330]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

ARVD5 (TMEM43-Gen [OMIM

#612048])


ARVD8 (DSP-Gen [OMIM #125647]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

ARVD9 (PKP2-Gen [OMIM #602861]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

ARVD10 (DSG2-Gen

[OMIM #125671])


ARVD11 (DSC2-Gen

[OMIM #125645])


ARVD12 (JUP-Gen [OMIM #173325]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

Ataxie, episodisch Typ 2 (EA2)

(CACNA1A-Gen [OMIM #601011])


Ataxie, Friedreichsche (FRDA1) (FXN-

Gen [OMIM #606829])

EDTA-Blut, DNA aus Blut PCR, Fragmentlängenanalyse, TP-PCR,

Agarosegelelektrophorese:long-range-

PCR

Ataxien, spinocerebelläre autosomal-

dominante (SCA1) (ATXN1-Gen

[OMIM #601556])

EDTA-Blut, DNA aus Blut PCR, Fragmentlängenanalyse, TP-PCR



[OMIM #601517])




[OMIM #607047])



dominante (SCA6) (CACNA1A-Gen

[OMIM #601011])




[OMIM #607640])



dominante (SCA17) (TBP-Gen [OMIM

#600075])


Atrium Septum Defekt Typ 5 (ACTC1-

Gen [OMIM #102540])


Autoimmun-Polyendokrinopathie-

Candidiasis-Ektodermaldystrophie-

Syndrom Typ I (APECED) (AIRE-Gen

[OMIM #607358])






Axenfeld-Rieger Syndrom Typ 3, mit

und ohne Herzfehler (FOXC1-Gen

[OMIM #601090])


Bannayan-Riley-Ruvalcaba-

Syndrom (BRRS)

(PTEN-Gen [OMIM #601728])


Bardet-Biedl Syndrom, Phänotyp

(NPHP1-Gen [OMIM #607100])


Beare-Stevenson Cutis Gyrata

Syndrom (BSTVS) (FGFR2-Gen [OMIM

#176943])


Benigne, familiäre, infantile

Krampfanfälle (BFIS3) (SCN2A-Gen

[OMIM #182390])


Bent Bone Dysplasia (FGFR2-Gen

[OMIM #176943])


Beta-Thalassämie (HBB-Gen [OMIM

#141900])


Beta-Tubulinopathie - Kortikale

Dysgenese mit pontozerebelläre

Hypoplasie 1 (TUBB3-Gen [OMIM

#602661])




Hypoplasie 6 (TUBB-Gen [OMIM

#191130])




Hypoplasie 7

(TUBB2B-Gen [OMIM #612850])


Bikuspide Aortenklappe 1 (AOVD1)



Biotinidase-Defizienz (BTD-Gen

[OMIM #609019])


Borjeson-Forssman-Lehmann-

Syndrom (PHF6-Gen [OMIM

#300414])


Branchiootisches-Syndrom 1, BOS1

(EYA1-Gen [OMIM #601653])


Branchio-oto-renales Syndrom Typ 1

(EYA1-Gen [OMIM #601653])







(SIX5-Gen [OMIM #600963])





Brugada-Syndrom (KCNH2-Gen

[OMIM #152427])


Brugada-Syndrom 1 (SCN5A-Gen

[OMIM #600163])


Brugada-Syndrom 2 (GPD1L-Gen

[OMIM #611778])


Brugada-Syndrom 3 (CACNA1C-Gen

[OMIM #114205])


Brugada-Syndrom 4 (CACNB2-Gen

[OMIM #600003])


Brugada-Syndrom 5 (SCN1B-Gen

[OMIM #600235])


Brugada-Syndrom 6 (KCNE3-Gen

[OMIM #604433])


Brugada-Syndrom 7 (SCN3B-Gen

[OMIM #608214])


Butyrylcholinesterase (BCHE)-

Defizienz und postoperative Apnoe

(BCHE-Gen [OMIM #177400])


CADASIL1 (NOTCH3-Gen [OMIM

#600276])


Cardio-Fazio-Cutanes-Syndrom (CFC)

Typ 1

(BRAF-Gen [OMIM #164757])



Typ 2

(KRAS-Gen [OMIM #190070])



Typ 3 (MAP2K1-Gen [OMIM

#176872])



Typ 4 (MAP2K2-Gen [OMIM

#601263])


Carnitin-Palmitoyl-Transferase-

Mangel Typ1A (CPT1A-Gen [OMIM

#600528])






Carnitin-Palmitoyl-Transferase-

Mangel Typ2 (CPT2-Gen [OMIM

#600650])


Central Core Myopathie (RYR1-Gen

[OMIM #180901])


Charcot-Marie-Tooth-Krankheit Typ

2B1 (CMT2B1) (LMNA-Gen [OMIM

#150330])


Charcot-Marie-Tooth-Krankheit, X-

chromosomale, Typ 1 (CMT1X) (GJB1-

Gen [OMIM #304040])


CHARGE-Syndrom (CHD7-Gen [OMIM

#608892])


Chorea Huntington (HTT-Gen [OMIM

#613004])


Chorea, hereditäre benigne (NKX2-1-

Gen [OMIM #600635])


CINCA-Syndrom (NLRP3-Gen [OMIM

#606416])


Coenzyme Q10 Defizienz (COQ6-Gen

[OMIM #614647])


Coffin-Lowry-Syndrom (CLS) (RPS6KA3-

Gen [OMIM #300075])


Congenitale bilaterale Aplasie des Vas

deferens (CBAVD) (CFTR-Gen [OMIM

#602421])


Congenitale kontrakturelle

Arachnodaktylie (CCA) (FBN2-Gen

[OMIM #612570])


Cornelia de Lange-Syndrom 1 (NIPBL-

Gen [OMIM #608667])


Costello-Syndrom (HRAS-Gen [OMIM

#190020])


Costello-Syndrom (KRAS-Gen [OMIM

#190070])


CPTII-Mangel, Infantil (CPT2-Gen

[OMIM #600650])


CPTII-Mangel, letal neonatal (CPT2-

Gen [OMIM #600650])


CPVT1 (RYR2-Gen [OMIM #180902]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung





CPVT2 (CASQ2-Gen

[OMIM #114251])


Creutzfeldt-Jakob Erkrankung,

familiäre Form (CJD) (PRNP-Gen

[OMIM #176640])


Crigler-Najxr-Syndrom (UGT1A1-Gen

[OMIM #191740])


Crouzon-Syndrom (FGFR2-Gen [OMIM

#176943])


Cryopyrin-assoziierte periodische

Syndrome (CAPS) (NLRP3-Gen [OMIM

#606416])


Cutis laxa, autosomal rezessiv, Typ 1B

(ARCL1B) (EFEMP2-Gen [OMIM

#604633])


CYP1A2-Gen [OMIM #124060] EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

CYP2B6-Gen [OMIM #123930] EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

CYP2C8-Gen [OMIM #601129] EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

CYP2C9-Gen [OMIM #601130] EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

CYP2D6-Gen [OMIM #124030] EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

CYP3A4-Gen [OMIM #124010] EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

Cystische Fibrose (Mukoviszidose, CF)

(CFTR-Gen [OMIM #602421])

EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung,

Agarosegelektrophorese,

Restriktionsanalyse

DCM (DSP-Gen [OMIM #125647]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

DCM (SCN5A-Gen [OMIM #600163]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

DCM1A (LMNA-Gen

[OMIM #150330])


DCM1D (TNNT2-Gen [OMIM

#191045])


DCM1MM (MYBPC3-Gen [OMIM

#600958])


DCM1NN/HCM (RAF1-Gen [OMIM

#164760])


DCM1S (MYH7-Gen

[OMIM #160760])


DCM1Y (TPM1-Gen

[OMIM #191010])


DCM2A (TNNI3-Gen

[OMIM #191044])






DCM3B (DMD-Gen

[OMIM #300377])


Dentatorubrale Pallido-Luysische

Atrophie (DRPLA) (ATN1-Gen [OMIM

#607462])

EDTA-Blut, DNA aus Blut PCR, Fragmentlängenanalyse

Denys-Drash Syndrom (WT1-Gen

[OMIM #607102])


DFNA11 (auch Usher-Syndrom Typ 1B,

s. syndromale Formen; auch DFNB2, s.

autosomal-rezessive Formen)

(MYO7A-Gen [OMIM #276903])


DFNA13 (auch DFNB53, s. autosomal-

rezessive Formen) (COL11A2-Gen

[OMIM #120290])


DFNA17 (auch

Makrothrombozytopenie und

progressive sensorineurale Taubheit,

s. syndromale Formen) (MYH9-Gen

[OMIM #160775])


DFNA23 (auch Brachiootic

syndrome 3) (SIX1-Gen

[OMIM #601205])


DFNA2B (auch Schwerhörigkeit mit

periferer Neuropathie; auch

autosomal rezessive digenische

Vererbung mit GJB2-Gen s. 220290)

(GJB3-Gen [OMIM #603324])


DFNA3A (auch DFNB1A, s. autosomal-

rezessive Form) (GJB2-Gen [OMIM

#121011])


DFNA3B (auch DFNB1B,

s. autosomal-rezessive Formen; auch

digenische Vererbung mit GJB2-Gen s.

220290)



DFNB12 (auch Usher-Syndrom Typ 1D

s. syndromale Formen) (CDH23-Gen

[OMIM #605516])


DFNB16 (STRC-Gen

[OMIM #606440])


DFNB1B (auch DFNA3B s. autosomal-

dominante Formen, auch digenische

Vererbungen mit GJB2-Gen, s.

220290) (GJB6-Gen

[OMIM #604418])






DFNB2

(auch Usher-Syndrom Typ 1B, s.

syndromale Formen; auch DFNA11, s.

autosomal-dominante Formen)

(MYO7A-Gen [OMIM #276903])


DFNB23 (auch Usher-Syndrom Typ 1F,

s. syndromale Formen, auch

digenische Vererbung mit CDH23 Gen,

s. 601067) (PCDH15-Gen

[OMIM #605514])


DFNB4 (SLC26A4-Gen [OMIM

#605646])


DFNB53 (auch DFNA13 s. autosomal-

dominante Formen) (COL11A2-Gen

[OMIM #120290])


Diabetes insipidus renalis (NDI)

(AVPR2-Gen [OMIM #300538])


DPD-Defizienz, hereditäre (hereditäre

Thymin-Uracilurie) (DPYD-Gen [OMIM

#612779])


Dravet-Syndrom (SCN1A-Gen [OMIM

#182389])


Dysbetalipoproteinämie (Typ III-

Hyperlipidämie) (APOE-Gen [OMIM

#107741])


EDMD2 (LMNA-Gen [OMIM #150330]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

EDMD3 (LMNA-Gen [OMIM #150330]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

EDMD7 (TMEM43-Gen [OMIM

#612048])


EDS, Progeroider Typ 2 (EDSP2)

(B3GALT6-Gen [OMIM #615291])


Ehlers-Danlos-Syndrom mit

Herzklappenbeteiligung (cvEDS)







Ehlers-Danlos-Syndrom mit

periventrikulärer Heterotopie

(PVNH4) (FLNA-Gen [OMIM #300017])


Ehlers-Danlos-Syndrom mit Tenascin-

X-Defizienz (clEDS) (TNXB-Gen [OMIM

#600985])


Ehlers-Danlos-Syndrom,

Arthrochalasis Typ (aEDS) (COL1A1-

Gen [OMIM #120150])



Arthrochalasis Typ (aEDS) (COL1A2-

Gen [OMIM #120160])



Dermatosparaxis Typ (dEDS)

(ADAMTS2-Gen [OMIM #604539])


Ehlers-Danlos-Syndrom, klassischer

Typ (cEDS) (COL1A1-Gen [OMIM

#120150])




#120215])




#120190])



kyphoskoliotischer Typ (kEDS)

(FKBP14-Gen [OMIM #614505])



kyphoskoliotischer Typ (kEDS) (PLOD1-

Gen [OMIM #153454])



muskulokontraktureller Typ 1

(mcEDS) (CHST14-Gen [OMIM

#608429])







Spondylodysplastische Form (spEDS-

B3GALT6) (B3GALT6-Gen [OMIM

#615291])



Spondylodysplastische Form (spEDS-

B4GALT7) (B4GALT7-Gen [OMIM

#604327])


Ehlers-Danlos-Syndrom, vaskulärer

Typ (vEDS) (COL3A1-Gen [OMIM

#120180])


EIEE1 - Frühinfantile epileptische

Enzephalopathie,

Ohtahara-Syndrom

(ARX-Gen [OMIM #300382])


EIEE1 - Partington-Syndrom (ARX-Gen

[OMIM #300382])


EIEE1 - Proud-Syndrom (ARX-Gen

[OMIM #300382])



Enzephalopathie,

Ohtahara-Syndrom

(SCN2A-Gen [OMIM #182390])


EIEE2 - Atypisches Rett-Syndrom

(CDKL5-Gen [OMIM #300203])



Enzephalopathie,

Ohtahara-Syndrom

(STXBP1-Gen [OMIM #602926])



Enzephalopathie (CACNA1A-Gen

[OMIM #601011])


EIEE6 - Dravet-Syndrom, SMEI (SCN1A-

Gen [OMIM #182389])


EIEE6 - Panayiotopoulos-Syndrom



EIEE9 - Epilepsie mit mentaler

Retardierung bei Mädchen (Juberg-

Hellmann-Syndrom) (PCDH19-Gen

[OMIM #300460])






Ektopia lentis, familiär, isoliert

(ECTOL1) (FBN1-Gen [OMIM

#134797])


Ektopia lentis, isoliert (ECTOL2)

(ADAMTSL4-Gen [OMIM #610113])


Episodische Ataxie mit neonataler

Epilepsie (SCN2A-Gen [OMIM

#182390])


Episodische Ataxie, Typ 2 (CACNA1A-

Gen [OMIM #601011])


Erkrankung der Aortenklappe Typ 1



Erythropoetische Protoporphyrie

(EPP) (ALAS2-Gen [OMIM #301300])


Erythropoetische Protoporphyrie

(EPP) (FECH-Gen [OMIM #612386])


Faktor VII Mangel (F7-Gen [OMIM

#613878])


Faktor XIII Mangel (F13A1-Gen [OMIM

#134570])


Faktor XIII Mangel (F13B-Gen [OMIM

#134580])


Familiäre Hypercholesterinämie (FH)

(LDLR-Gen [OMIM #606945])


Familiäre Dysbetalipoproteinämie

(APOE-Gen [OMIM #107741])


Familiäre Hypobetalipoproteinämie

(FHBL) (ANGPTL3-Gen

[OMIM #604774])



(FHBL) (APOB-Gen [OMIM #107730])



(FHBL) (PCSK9-Gen

[OMIM #607786])


Familiäres Kälte-assoziiertes

autoinflammatorisches Syndrom Typ I

(NLRP3-Gen [OMIM #606416])


Familiäres Mittelmeerfieber (MEFV-

Gen [OMIM #608107])






Fehlbildungen der ableitenden

Harnwege / Urofaziales Syndrom Typ

1 (HPSE2-Gen [OMIM #613469])



Harnwege (HNF1B-Gen [OMIM

#189907])



Harnwege (RET-Gen [OMIM

#164761])



Harnwege / Branchio-oto-renales

Syndrom Typ 1 (EYA1-Gen [OMIM

#601653])



Harnwege / Prune-Belly Syndrom

(ACTA2-Gen [OMIM #102620])



Harnwege / Prune-Belly Syndrom

(CHRM3-Gen [OMIM #118494])



Harnwege / Urofacial syndrome Typ 2

(LRIG2-Gen [OMIM #608869])


FHM1 - familiäre hemiplegische

Migräne Typ 1 (CACNA1A-Gen [OMIM

#601011])



Migräne Typ 2 (ATP1A2-Gen [OMIM

#182340])



Migräne Typ 3 (SCN1A-Gen [OMIM

#182389])


Fish Eye Disease (FED) (LCAT-Gen

[OMIM #606967])


FLNA-assoziierte Lungenerkrankung

(FLNA-Gen [OMIM #300017])


Fokal segmentale

Glomerulosklerose (COL4A3-Gen

[OMIM #120070])






Fokal segmentale


[OMIM #120131])


Fokal segmentale


[OMIM #303630])


Fokal segmentale

Glomerulosklerose (MYH9-Gen

[OMIM #160775])


Fokal segmentale

Glomerulosklerose Typ 1 (ACTN4-Gen

[OMIM #604638])


Fokal segmentale

Glomerulosklerose Typ 2 (TRPC6-Gen

[OMIM #603652])


Fokal segmentale

Glomerulosklerose Typ 3 (CD2AP-Gen

[OMIM #604241])


Fokal segmentale

Glomerulosklerose Typ 5 (INF2-Gen

[OMIM #610982])


Fragiles X-Tremor-Ataxie-Syndrom,

FXTAS (FMR1-Gen [OMIM #309550])


Fragiles-X assoziierte prämature

Ovarialinsuffizienz, FXPOI (FMR1-Gen

[OMIM #309550])


Fragiles-X-Syndrom (FMR1-Gen

[OMIM #309550])


Frasier Syndrom (WT1-Gen [OMIM

#607102])


Frühkindliche epileptische

Enzephalopathie 1 (ARX-Gen [OMIM

#300382])



Enzephalopathie 2 / Rett-Syndrom,

atypisch (CDKL5-Gen [OMIM

#300203])



Enzephalopathie 4 (STXBP1-Gen

[OMIM #602926])







Enzephalopathie 9 (PCDH19-Gen

[OMIM #300460])



Enzephalopathie 11 (SCN2A-Gen

[OMIM #182390])


Frühkindliche X-gebundene Epilepsie

mit geistiger Behinderung (PCDH19-

Gen [OMIM #300460])


FSH-Rezeptor-Defizienz (FSHR-Gen

[OMIM #136435])


Galaktosämie (GALT-Gen [OMIM

#606999])


GEFS+ - Generalisierte Epilepsie mit

Fieberkrämpfen plus Typ 1 (GEFSP1)

(SCN1B-Gen [OMIM #600235])








(GABRG2-Gen [OMIM #137164])


Geleophysische Dysplasie

(GPHYSD2) (FBN1-Gen

[OMIM #134797])


Gerstmann-Sträussler-Scheinker-

Syndrom (PRNP-Gen [OMIM

#176640])


Gitelman-Syndrom (SLC12A3-Gen

[OMIM #600968])


Glucose-6-Phosphat-

Dehydrogenase-Defizienz (Favismus)

(G6PD-Gen

[OMIM #305900])


Glukosetransporter Typ 1-Defizienz-

Syndrom (GLUT1-DS) (SLC2A1-Gen

[OMIM #138140])


Glutarazidurie Typ 1 (GCDH-Gen

[OMIM #608801])


GPIHBP1-Defizienz (GPIHBP1-Gen

[OMIM #612757])






Hämophilie A (F8-Gen [OMIM

#300841])


Hämophilie B (F9-Gen [OMIM

#300746])


Hartsfield-Bixler-Demyer Syndrom

(FGFR1-Gen [OMIM #136350])


HCM (MYLK2-Gen [OMIM #606566]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

HCM1 (MYH7-Gen

[OMIM #160760])


HCM2 (TNNT2-Gen

[OMIM #191045])


HCM4 (MYBPC3-Gen

[OMIM #600958])


HCM7 (TNNI3-Gen

[OMIM #191044])


HCM8 (MYL3-Gen [OMIM #160790]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

HCM10 (MYL2-Gen

[OMIM #160781])


HCM11 (ACTC1-Gen

[OMIM #102540])


Hepatische Lipase-Mangel (LIPC-Gen

[OMIM #151670])


Hepatoerythropoetische Porphyrie

(HEP) (UROD-Gen [OMIM #613521])


Hereditäre Koproporphyrie (HCP)

(CPOX-Gen [OMIM #612732])


Hereditäre Neuropathie mit Neigung

zu Drucklähmung (HNPP) (PMP22-Gen

[OMIM #601097])


Hereditäre Sphärozytose Typ 1 (ANK1-

Gen [OMIM #612641])


Hereditäre Sphärozytose Typ 2 (SPTB-

Gen [OMIM #182870])


Hereditäre Sphärozytose Typ 3 (SPTA1-

Gen [OMIM #182860])


Hereditäre Sphärozytose Typ 4

(SLC4A1-Gen [OMIM #109270])


Hereditäre Sphärozytose Typ 5 (EPB42-

Gen [OMIM #177070])






Heterotopie, periventrikulär

nodulär (FLNA-Gen

[OMIM #300017])


Hirn-Lunge-Schilddrüse-Syndrom

(NKX2-1-Gen [OMIM #600635])


HNF1B-assoziierte kongenitale

Fehlbildungen der Nieren und

ableitenden Harnwege (CAKUT)

(HNF1B-Gen [OMIM #189907])


Hörverlust, rezessiv (GJB2-Gen [OMIM

# 121011])


Huntington-ähnliche Erkrankung 1

(PRNP-Gen [OMIM #176640])


Hyper-IgD-und-periodisches-

Fiebersyndrom (HIDS) (MVK-Gen

[OMIM #251170])


Hyperoxalurie, primäre, Typ 1 (PH1)

(AGXT-Gen [OMIM #604285])


Hypobetalipoproteinämie, familiär

(FHBL) (APOB-Gen [OMIM #107730])


Hypochondrogenesie (COL2A1-Gen

[OMIM #120140])


Hypochondroplasie (HCH) (FGFR3-Gen

[OMIM #134934])


Hypogonadotroper

Hypogonadismus 1 mit oder

ohne Anosmie

(ANOS1-Gen [OMIM #300836])


Hypogonadotroper Hypogonadismus

2 mit

oder ohne Anosmie



Hypogonadotroper


ohne Anosmie

(PROKR2-Gen [OMIM #607123])






Hypogonadotroper


ohne Anosmie

(PROK2-Gen [OMIM #607002])


Hypogonadotroper


ohne Anosmie

(CHD7-Gen [OMIM #608892])


Hypogonadotroper


ohne Anosmie

(FGF8-Gen [OMIM #600483])


Hypokaliämische Periodische

Paralyse (KCNJ18-Gen [OMIM

#613236])


Hypokaliämische Periodische Paralyse

Typ 1 (CACNA1S-Gen [OMIM

#114208])


Hypokaliämische periodische Paralyse

Typ 1 (HOKPP1) (CACNA1S-Gen

[OMIM #114208])


Idiopathische, generalisierte Epilepsie

mit Absencen (SLC2A1-Gen [OMIM

#138140])


Isovalerianazidämie (IVD-Gen [OMIM

#607036])


xckson-Weiss Syndrom (FGFR1-Gen

[OMIM #136350])


xckson-Weiss Syndrom (FGFR2-Gen

[OMIM #176943])


Jervell-Lange-Nielsen-Syndrom 1

(KCNQ1-Gen [OMIM #607542])


Jervell-Lange-Nielsen-Syndrom 2

(KCNE1-Gen [OMIM #176261])


Joubert Syndrom Typ 4 (NPHP1-Gen

[OMIM #607100])


Juvenile Poliposis/Hereditäres

hemorrhagisches Teleangiektasie

Syndrom (JPHT) (SMAD4-Gen [OMIM

#600993])






Kabuki-Syndrom 1 (KMT2D-Gen

[OMIM #602113])


Kardiale valvuläre Dysplasie, X-linked

(FLNA-Gen [OMIM #300017])


Kardio-fazio-kutanes Syndrom 1

(BRAF-Gen [OMIM #164757])


Kardio-fazio-kutanes Syndrom 2 (KRAS-

Gen [OMIM #190070])



(MAP2K1-Gen [OMIM #176872])



(MAP2K2-Gen [OMIM #601263])


Kindliche Absence-

Epilepsie 2 (ECA2)

(GABRG2-Gen [OMIM #137164])


Kniest-Syndrom (COL2A1-Gen [OMIM

#120140])


Kongenitale alveolar-kapilläre

Dysplasie (ACDMPV) (FOXF1-Gen

[OMIM #601089])


Kongenitale erythropoetische

Porphyrie (CEP) (UROS-Gen [OMIM

#606938])


Kongenitale Fehlbildung der Nieren

und ableitenden Harnwege (CAKUT)

(ANOS1-Gen [OMIM #300836])




(HNF1B-Gen [OMIM #189907])



und ableitenden Harnwege (CAKUT) /

Axenfeld-Rieger Syndrom Typ 3

(FOXC1-Gen [OMIM #601090])


Kongenitale Fehlbildung der

Nieren und ableitenden Harnwege

(CAKUT)/ Nierenagenesie

/Hypoplasie Phänotyp

(RET-Gen [OMIM #164761])


Kongenitale kontrakturelle

Arachnodaktylie (FBN2-Gen [OMIM

#612570])






Kongenitaler Laktasemangel (LCT-Gen

[OMIM #603202])


Kraniosynostose Typ 1 (CRS1) (TWIST1-

Gen [OMIM #601622])


LDL-Adaptor-Protein-Defizienz

(LDLRAP1-Gen [OMIM #605747])


LDL-Rezeptor-Defizienz (LDLR-Gen

[OMIM #606945])


Lecithin-Cholesterin Acyltransferase-

(LCAT-) Defizienz (LCAT-Gen [OMIM

#606967])


Legius-Syndrom, Neurofibromatose

Typ 1-ähnliches Syndrom (NFLS)

(SPRED1-Gen [OMIM #609291])


LEOPARD-Syndrom (MAP2K1-Gen

[OMIM #176872])


LEOPARD-Syndrom Typ 1 (PTPN11-

Gen [OMIM #176876])


LEOPARD-Syndrom Typ 2 (RAF1-Gen

[OMIM #164760])


LEOPARD-Syndrom Typ 3 (BRAF-Gen

[OMIM #164757])


Léri-Weill Dyschondrosteose, Langer

mesomele Dysplasie (SHOX-Gen

[OMIM #312865])


LGMD1B (LMNA-Gen [OMIM

#150330])


LGMD1C (CAV3-Gen [OMIM

#601253])


Li-Fraumeni-Syndrom (LFS) (TP53-Gen

[OMIM #191170])


Lipoproteinlipase- (LPL-) Defizienz,

familiär (LPL-Gen [OMIM #609708])


Loeys-Dietz-Syndrom Typ 1 (LDS1)

(TGFBR1-Gen [OMIM #190181])






(SMAD3-Gen [OMIM #603109])



(TGFB2-Gen [OMIM #190220])






Longchain-Acyl-CoA-Dehydrogenase

Defizienz (LCHAD) (HADHA-Gen

[OMIM #600890])


LQT (KCNE3-Gen [OMIM #604433]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

LQT1 (KCNQ1-Gen

[OMIM #607542])


LQT2 (KCNH2-Gen [OMIM #152427]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

LQT3 (SCN5A-Gen [OMIM #600163]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

LQT4 (ANK2-Gen [OMIM #106410]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

LQT5 (KCNE1-Gen [OMIM #176261]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

LQT6 (KCNE2-Gen [OMIM #603796]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

LQT7 Anderson-Syndrom (KCNJ2-Gen

[OMIM #600681])


LQT8 Timothy Syndrom (CACNA1C-

Gen [OMIM #114205])


LQT9 (CAV3-Gen [OMIM #601253]) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

LQT10 (SCN4B-Gen

[OMIM #608256])


LQT12 (SNTA1-Gen

[OMIM #601017])


Makrothrombozytopenie und

progresive sensorineurale Taubheit

(MYH9-Gen [OMIM #160775])


Maligne Hyperthermie (CACNA1S-Gen

[OMIM #114208])


Maligne Hyperthermie (RYR1-Gen

[OMIM #180901])


Malignes Melanom (BRAF-Gen [OMIM

#164757])


Malignes Melanom (NRAS-Gen

[OMIM #164790])


Malignes Melanom, familiäre Form

Typ 2 (CDKN2A-Gen

[OMIM #600160])


Mangel an mitochondrialem

trifunktionalen Protein

(MTP-Mangel)

(HADHA-Gen [OMIM #600890])






Marfan-Syndrom (MFS) (FBN1-Gen

[OMIM #134797])


Marfan-Syndrom Typ 2 (MFS2)






Marshall-Syndrom (COL11A1-Gen

[OMIM #120280])


MASS-Syndrom (MASS) (FBN1-Gen

[OMIM #134797])


MCPH5 (ASPM-Gen

[OMIM #605481])


Meacham Syndrom (WT1-Gen [OMIM

#607102])


Melnick-Needles Syndrom (FLNA-Gen

[OMIM #300017])


Mentale Retardierung,

X-chromosomal-syndromal

Nascimento Typ

(UBE2A-Gen [OMIM #312180])


Metaphysäre Chondrodysplasie Typ

Schmid (MCDS) (COL10A1-Gen [OMIM

#120110])


Methylmalonazidurie, Vit.B12-

resistent (MUT-Gen

[OMIM #609058])


Mevalonazidurie (MVK-Gen [OMIM

#251170])


Mikrophthalmie Typ Lenz (BCOR-Gen

[OMIM #300485])


Minicore-Myopathie mit externer

Ophthalmoplegie (RYR1-Gen [OMIM

#180901])


Mittelketten-Acyl-CoA-

Dehydrogenase-Defizienz (MCAD)

(ACADM-Gen [OMIM #607008])


Mittelmeerfieber, familiäre Form

(FMF) (MEFV-Gen [OMIM #608107])


MODY-Diabetes Typ 1 (HNF4A-Gen

[OMIM #600281])






MODY-Diabetes Typ 2 (GCK-Gen

[OMIM #138079])


MODY-Diabetes Typ 3 (HNF1A-Gen

[OMIM #142410])


MODY-Diabetes Typ 4 (PDX1-Gen

[OMIM #600733])


MODY-Diabetes Typ 5 (HNF1B-Gen

[OMIM #189907])


MODY-Diabetes Typ 6 (NEUROD1-Gen

[OMIM #601724])


MODY-Diabetes Typ 7 (KLF11-Gen

[OMIM #603301])


MODY-Diabetes Typ 8 (CEL-Gen

[OMIM #114840])


MODY-Diabetes Typ 9 (PAX4-Gen

[OMIM #167413])


MODY-Diabetes Typ 10 (INS-Gen

[OMIM #176730])


MODY-Diabetes Typ 11 (BLK-Gen

[OMIM #191305])


MODY-Diabetes Typ 12 (ABCC8-Gen

[OMIM #600509])


MODY-Diabetes Typ 13 (KCNJ11-Gen

[OMIM #600937])


Morbus Fabry (GLA-Gen [OMIM

#300644])


Morbus Fabry, renale Variante (GLA-

Gen [OMIM #300644])


Morbus Gaucher (GBA-Gen [OMIM

#606463])


Morbus Pompe (GAA-Gen [OMIM

#606800])


Mowat-Wilson-Syndrom (MWS) (ZEB2-

Gen [OMIM #605803])


Muckle-Wells-Syndrom (NLRP3-Gen

[OMIM #606416])


Muenke Syndrom (MNKES) (FGFR3-

Gen [OMIM #134934])


Multiple endokrine Neoplasie Typ 2A

und B (MEN2) (RET-Gen [OMIM

#164761])


Muskelatrophie, spinale Typ I – III (IV)

(SMA1,2,3,4) (SMN1-Gen [OMIM

#600354])






Muskelatrophie, spinobulbär (SBMA,

Kennedy Krankheit) (AR-Gen [OMIM

#313700])


Muskeldystrophie Duchenne / Becker

(DMD-Gen [OMIM #300377])


MUTYH-assoziierte Polyposis (MAP)

(MUTYH-Gen [OMIM #604933])


Myopathie durch CPTII-Mangel (CPT2-

Gen [OMIM #600650])


Myosinspeichermyopathie (MYH7-

Gen [OMIM #160760])


Myotone Dystrophie (Curschmann-

Steinert-Syndrom) (DMPK-Gen [OMIM

#605377])


NAT2-Gen OMIM #612182 EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

NCCM4 (ACTC1-Gen [OMIM

#102540])


NCCM5 (MYH7-Gen [OMIM

#160760])


NCCM6 (TNNT2-Gen [OMIM

#191045])


NCCM9 (TPM1-Gen

[OMIM #191010])


NCCM10 (MYBPC3-Gen [OMIM

#600958])


Nephronophthise Typ 1 (NPHP1-Gen

[OMIM #607100])


Nephrotisches Syndrom Typ 1 (NPHS1-

Gen [OMIM #602716])


Nephrotisches Syndrom Typ 2 (NPHS2-

Gen [OMIM #604766])


Nephrotisches Syndrom Typ 3 (PLCE1-

Gen [OMIM #608414])


Nephrotisches Syndrom Typ 4 (WT1-

Gen [OMIM #607102])


Nephrotisches Syndrom Typ 5 (LAMB2-

Gen [OMIM #150325])


Nephrotisches Syndrom, isoliert -

NPHS4 (WT1-Gen [OMIM #607102])


Neurofibromatose Typ 1 (NF1) (NF1-

Gen [OMIM #613113])






Neurofibromatose-Noonan-

Syndrom (NFNS) (NF1-Gen

[OMIM #613113])


Neurofibromatose-Noonan-

Syndrom (PTPN11-Gen

[OMIM #176876])


Nierenagenesie/Hypoplasie

Phänotyp (ANOS1-Gen

[OMIM #300836])



Phänotyp (HNF1B-Gen

[OMIM #189907])



Phänotyp (RET-Gen

[OMIM #164761])


Noonan-Syndrom (NF1-Gen [OMIM

#613113])


Noonan-Syndrom (PPP1CB-Gen

[OMIM #600590])


Noonan-Syndrom (RASA2-Gen [OMIM

#601589])


Noonan-Syndrom (RRAS-Gen [OMIM

#165090])


Noonan-Syndrom Typ 1 (PTPN11-Gen

[OMIM #176876])


Noonan-Syndrom Typ 3 (KRAS-Gen

[OMIM #190070])


Noonan-Syndrom Typ 4 (SOS1-Gen

[OMIM #182530])


Noonan-Syndrom Typ 5 (RAF1-Gen

[OMIM #164760])


Noonan-Syndrom Typ 6 (NRAS-Gen

[OMIM #164790])


Noonan-Syndrom Typ 7 (BRAF-Gen

[OMIM #164757])


Noonan-Syndrom Typ 8 (RIT1-Gen

[OMIM #609591])


Noonan-Syndrom Typ 9 (MAP2K1-Gen

[OMIM #176872])


Noonan-Syndrom Typ 9 (MAP2K2-Gen

[OMIM #601263])


Noonan-Syndrom Typ 9 (SOS2-Gen

[OMIM #601247])






Noonan-Syndrom-ähnliche

Erkrankung mit losem Anagenhaar 2

(PPP1CB-Gen [OMIM #600590])



Erkrankung mit losem Anagenhaar

(SHOC2-Gen [OMIM #602775])



Erkrankungen mit oder ohne

juvenile myelomonozytäre

Leukämie (CBL-Gen [OMIM

#165360])


Okihiro-Syndrom (SALL4-Gen [OMIM

#607343])


Osteogenesis imperfecta, type I



Osteogenesis imperfecta, type I



Osteogenesis imperfecta, type II



Osteogenesis imperfecta, type II



Osteogenesis imperfecta, type III



Osteogenesis imperfecta, type III



Osteogenesis imperfecta, type IV



Osteogenesis imperfecta, type IV



Osteogenesis imperfecta, type VII

(CRTAP-Gen [OMIM #605497])


Osteogenesis imperfecta, type VIII

(P3H1-Gen [OMIM #610339])


Osteogenesis imperfecta, type IX

(PPIB-Gen [OMIM #123841])


Osteoglophonische Dysplasie

(OGD) (FGFR1-Gen [OMIM

#136350])


Otospondylomegaepiphysäre

Dysplasie (OSMED) (COL11A2-Gen

[OMIM #120290])


Ovarialdysgenesie Typ 1 (FSHR-Gen

[OMIM #136435])


Ovarialdysgenesie Typ 2 (BMP15-Gen

[OMIM #300247])






Pankreaskarzinom (KRAS-Gen [OMIM

#190070])


Pankreatitis, chronisch (CFTR-Gen

[OMIM #602421])


Pankreatitis, chronisch (CPA1-Gen

[OMIM #114850])


Pankreatitis, chronisch (CTRC-Gen

[OMIM #601405])


Pankreatitis, chronisch (PRSS1-Gen

[OMIM #276000])


Pankreatitis, chronisch (SPINK1-Gen

[OMIM #167790])


PCSK9-assoziierte

Hypercholesterinämie (PCSK9-Gen

[OMIM #607786])


Pendred-Syndrom (SLC26A4-Gen

[OMIM #605646])


Periventrikuläre Heterotopie (FLNA-

Gen [OMIM #300017])


Peutz-Jeghers-Syndrom (PJS) (STK11-

Gen [OMIM #602216])


Pfeiffer-Syndrom (FGFR1-Gen [OMIM

#136350])


Pfeiffer-Syndrom (FGFR2-Gen [OMIM

#176943])


Phenylketonurie (PAH-Gen [OMIM

#612349])


Phenylketonurie/Hyperphenylalaninä

mie (PKU/HPA) (PAH-Gen [OMIM

#612349])


Pitt-Hopkins-Syndrom (PTHS) (TCF4-

Gen [OMIM #602272])


POF, premature ovarian failure

(BMP15-Gen [OMIM #300247])


POF, premature ovarian failure (FSHR-

Gen [OMIM #136435])


Polyposis Coli, familiäre

adenomatöse (FAP) (APC-Gen

[OMIM #611731])


Porphyria cutanea tarda (PCT) (UROD-

Gen [OMIM #613521])


Porphyria variegata (PV) (PPOX-Gen

[OMIM #600923])






Prader-Willi-Syndrom (PWS) EDTA-Blut, DNA aus Blut Methylierungsspez. PCR nach

Bisulfitbehandlung

Primäre (a-r) Mikrozephalien Typ 5

(ASPM-Gen [OMIM #605481])


Primäre Myelofibrose (PMF) (EZH2-

Gen [OMIM #601573])


Primäre pulmonale Hypertomie, mit

und ohne Herzfehler (BMPR2-Gen

[OMIM #600799])


Protein C-Mangel (PROC-Gen [OMIM

#612283])


Protein S-Mangel (PROS1-Gen [OMIM

#176880])


Prune-Belly Syndrom (ACTA2-Gen

[OMIM #102620])


Prune-Belly Syndrom (CHRM3-Gen

[OMIM #118494])


Pulmonale arterielle Hypertonie

(PAH) (BMPR2-Gen [OMIM

#600799])



(PAH) (SMAD4-Gen [OMIM

#600993])


Pyridoxin-abhängige Epilepsie

(ALDH7A1-Gen [OMIM #107323])


Pyridoxin-abhängige Epilepsie

(EPD) (ALDH7A1-Gen [OMIM

#601313])


Renal cysts and diabetes Syndrom

(RCAD) (HNF1B-Gen [OMIM

#189907])


Retinitis pigmentosa 39 (USH2A-Gen

[OMIM #608400])


Rett Syndrom (RTT) (MECP2-Gen

[OMIM #300005])


Rett-Syndrom, atypisch (CDKL5-Gen

[OMIM #300203])


Rett-Syndrom, kongenitale Variante

(FOXG1-Gen [OMIM #164874])


Robinow-Sorauf-Syndrom (TWIST1-

Gen [OMIM #601622])






Rubinstein-Taybi Syndrom 1 (CREBBP-

Gen [OMIM #600140])


RYR1- assoziierte Myopathie (RYR1-

Gen [OMIM #180901])


Saethre-Chotzen-Syndrom (SCS und

SCS mit Augenlid-Anomalien) (FGFR2-

Gen [OMIM #176943])


Saethre-Chotzen-Syndrom (SCS und

SCS mit Augenlid-Anomalien) (TWIST1-

Gen [OMIM #601622])


Senior-Løken-Syndrom Typ 1 (NPHP1-

Gen [OMIM #607100])


SMA, proximal, spätmanifestierend

mit folgender Cardiomyopathie

(LMNA-Gen [OMIM #150330])


Smith-Lemli-Opitz-Syndrom (DHCR7-

Gen [OMIM #602858])


Sotos-Syndrom (NSD1-Gen [OMIM

#606681])


Spondyloepiphysäre Dysplasie

(SED) (COL2A1-Gen [OMIM

#120140])


Stickler-Syndrom Typ 3 (COL11A2-Gen

[OMIM #120290])


Stiff-Skin-Syndrom (SSKS) (FBN1-Gen

[OMIM #134797])


Surfactant-Dysfunktion Typ 1 (SFTPB-

Gen [OMIM #178640])


Surfactant-Dysfunktion Typ 2 (SFTPC-

Gen [OMIM #178620])


Surfactant-Dysfunktion Typ 3 (ABCA3-

Gen [OMIM #601615])


Surfactant-Dysfunktion Typ 4 (CSF2RA-

Gen [OMIM #306250])


Surfactant-Dysfunktion Typ 5 (CSF2RB-

Gen [OMIM #138981])


TAAD Typ 4 (MYH11-Gen [OMIM

#160745])


Tangier Erkrankung (TGD) (ABCA1-

Gen [OMIM #600046])


Tangier-Erkrankung (APOA1-Gen

[OMIM #107680])


Tatton-Brown-Rahman-Syndrom

(DNMT3A [OMIM #602769])






Taubheit, autosomal- dominant

11/autosomal-rezessiv 2/Usher-

Syndrom, Typ 1B (MYO7A-Gen [OMIM

#276903])


Taubheit, autosomal-dominant 13/

autosomal-rezessiv 53 (COL11A2-Gen

[OMIM #120290])


Taubheit, autosomal-dominant 17

/Epstein-Syndrom/Fechtner-

Syndrom/Makrothrombozytopenie

und progressive sensorineurale

Taubheit/May-Hegglin-

Anomalie/Sebastian-Syndrom (MYH9-

Gen [OMIM #160775])





Taubheit, autosomal-dominant 2B



Taubheit, autosomal-rezessiv

12/Usher -Syndrom, Typ 1D /F

(CDH23-Gen [OMIM #605516])


Taubheit, autosomal-rezessiv 16

(STRC-Gen [OMIM #606440])


Taubheit, autosomal-rezessiv 1A




23/Usher-Syndrom, Type 1D/F, 1F

(PCDH15-Gen [OMIM #605514])



4/Pendred-Syndrom (SLC26A4-Gen

[OMIM #605646])


Thanatophore Dysplasie (TD) (FGFR3-

Gen [OMIM #134934])


Timothy Syndrom (CACNA1C-Gen

[OMIM #114205])


TNF-Rezeptor-1-assoziiertes

periodisches Syndrom (TRAPS)

(TNFRSF1A-Gen [OMIM #191190])


TPMT-Gen [OMIM #187680] EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung

Trigonozephalie Typ 1 (TRIGNO1)



Tuberöse Sklerose Typ 1 (TSC1-Gen

[OMIM #605284])






Tuberöse Sklerose Typ 2 (TSC2-Gen

[OMIM #191092])


Tyrosinämie Typ I (FAH-Gen [OMIM

#613871])


UMOD-assoziierte

Nierenerkrankung (UMOD-Gen

[OMIM #191845])


Urofaciales Syndrom Typ 1 (HPSE2-

Gen [OMIM #613469])


Urofaciales Syndrom Typ 2 (LRIG2-

Gen [OMIM #608869])


Usher-Syndrom Typ 1B (MYO7A-Gen

[OMIM #276903])


Usher-Syndrom Typ 1D (CDH23-Gen

[OMIM #605516])


Usher-Syndrom Typ 1F (PCDH15-Gen

[OMIM #605514])


Usher-Syndrom Typ 2A (USH2A-Gen

[OMIM #608400])


Very Longchain-Acyl-CoA-

DehydrogenaseDefizienz (VLCAD)

(ACADVL-Gen [OMIM #609575])


Vesikoureteraler Reflux (TNXB-Gen

[OMIM #600985])


von Willebrand Erkrankung TYP 1

(VWF-Gen [OMIM #613160])


von Willebrand Erkrankung TYP 2

(VWF-Gen [OMIM #613160])


Von-Willebrand-Jürgens-Syndrom

(VWS) (VWF-Gen [OMIM #613160])


Wagner-Syndrom (WGN1) (VCAN-Gen

[OMIM #118661])


Weaver-Syndrom (EZH2-Gen [OMIM

#601573])


Weill-Marchesani Syndrom Typ 2

(FBN1-Gen [OMIM #134797])


Weill-Marchesani-Syndrom

(WMS2) (FBN1-Gen [OMIM

#134797])


Wilms-Tumor, isoliert (WT1-Gen

[OMIM #607102])


Wilson Erkrankung (WND) (ATP7B-

Gen [OMIM #606882])






Wiskott-Aldrich-Syndrom (WAS) (WAS-

Gen [OMIM #300392])


X-gebundener schwerer kombinierter

Immundefekt (X-SCID) (IL2RG-Gen

[OMIM #308380])


X-gebundenes lymphoproliferatives

Syndrom (XLP1) (SH2D1A-Gen [OMIM

#300490])


Zerebrale Mikroangiopathie mit

Hämorrhagie, vermehrte

Schlängelung der Netzhautarterien;

Porenzephalie 1



Zyklische Neutropenie (CyN) /

schwere kongenitale Neutropenie

(SCN)




Adrenogenitales Syndrom (AGS)

(CYP21A2 [OMIM #613815], CYP11B1

[OMIM #610613])


Alpha-Thalassämie (HBA1 [OMIM

#141800], HBA2 [OMIM #141850])


Basalzellnävus-Syndrom (Gorlin-Goltz-

Syndrom) (PTCH1 [OMIM #601309],

PTCH2 [OMIM # 603673], SUFU

[OMIM #607035])



(BRAF [OMIM #164757], KRAS [OMIM

#190070], MAP2K1 [OMIM #176872],

MAP2K2 [OMIM #601263])


Charcot-Marie-Tooth (CMT1) (PMP22

[OMIM #601097], GJB1 [OMIM

#304040], MPZ [OMIM #159440])


Chylomikronämie-Syndrom (LPL

[OMIM #609708], APOC2 [OMIM

#608083])


Locusheterogenität (Sanger-Sequenzierung)





Dünne Basalmembran

Nephropathie (TBMN)

(COL4A3 [OMIM #120070],

COL4A4 [OMIM #120131], COL4A5

[OMIM #303630])


Ehlers-Danlos-Syndrom

kyphoskoliotischer Typ (kEDS)

(FKBP14 [OMIM #614505], PLOD1

[OMIM #153454])


Fructoseintoleranz (hereditäre)

(ALDOB [OMIM #612724], FBP1

[OMIM #611570])


Generalisierte Epilepsie mit

Fieberkrämpfen plus (GEFS+) (SCN1A

[OMIM #182389], SCN2A [OMIM

#182390], SCN1B [OMIM #600235],

GABRG2 [OMIM #137164], PCDH19

[OMIM #300460])


Kardiomyopathie, familiär

restriktive (RCM) (TNNI3 [OMIM

#191044], TNNT2 [OMIM #191045],

DES [OMIM #125660], ACTC1 [OMIM

#102540])


Kolonkarzinom, familiär, nicht-

polypös (HNPCC) (MLH1 [OMIM

#120436] , MSH2 [OMIM #609309] ,

MSH6 [OMIM #600678] , PMS2

[OMIM #600259])


LEOPARD-Syndrom (BRAF [OMIM

#164757], MAP2K1 [OMIM #176872],

PTPN11 [OMIM #176876], RAF1

[OMIM #164760])



(TGFBR1 [OMIM #190181], TGFBR2

[OMIM #190182])


Neurofibromatose-Noonan

Syndrom (NF/NS) (NF1 [OMIM

#613113], PTPN11 [OMIM

#176876])






Noonan-Syndrom (BRAF [OMIM

#164757], CBL [OMIM #165360], KRAS

[OMIM #190070], MAP2K1 [OMIM

#176872], MAP2K2 [OMIM #601263],

NF1 [OMIM #613113], NRAS [OMIM

#164790], PPP1CB [OMIM #600590],


[OMIM #164760], RASA2 [OMIM

#601589], RIT1 [OMIM #609591],

RRAS [OMIM #165090], SHOC2

[OMIM #602775], SOS1 [OMIM

#182530], SOS2 [OMIM #601247])


Pankreatitis, hereditäre (CPA1 [OMIM

#114850], CTRC [OMIM #601405],

PRSS1 [OMIM #276000], SPINK1

[OMIM #167790])


Pfeiffer-Syndrom (FGFR1 [OMIM

#136350], FGFR2 [OMIM #176943])


Polyposis coli, juvenile (JPS) (SMAD4

[OMIM #600993], BMPR1A [OMIM

#601299])


Polyzystische Nierenerkrankung

(ADPKD) (PKD1 [OMIM #601313],

PKD2 [OMIM #173910])


Propionazidämie (PCCA [OMIM

#232000], PCCB [OMIM #232050])


Rett-Syndrom, atypisch,

frühkindliche Epilepsie (CDKL5 [OMIM

#300203], FOXG1

[OMIM #164874])


Silver-Russell-Syndrom (SRS) (H19

[OMIM #103280], IGF2 [OMIM

#147470])


Taubheit, mitochondrial,

medikamenten-induziert (MT-RNR1

[OMIM #561000], MT-TS1 [OMIM

#516030])






Tubulinopathien / Hirnfehlbildungen

(TUBA1A [OMIM #602529], TUBA8

[OMIM #605742], TUBB [OMIM

#191130], TUBB2A [OMIM #615101],

TUBB2B [OMIM #612850], TUBB3

[OMIM #602661], TUBG1 [OMIM

#191135])


Typ I-Hyperlipidämie (APOC2 [OMIM

#608083], LPL [OMIM #609708],

APOA5 [OMIM #606368])


Usher-Syndrom (ADGRV1 [OMIM

#602851], CDH23 [OMIM #605516],

CIB2 [OMIM #605564], CLRN1 [OMIM

#606397], HARS [OMIM #142810],

MYO7A [OMIM #276903], PCDH15

[OMIM #605514], PDZD7 [OMIM

#612971], USH1C [OMIM #605242],

USH1G [OMIM #607696], USH2A

[OMIM #608400], WHRN [OMIM

#607928])


Locusheterogenität (NGS-Panel)



Absence-Epilepsie (CACNA1H [OMIM

#607904], CLCN2 [OMIM #600570],

EFHC1 [OMIM #608815], GABRA1

[OMIM #137160], GABRB3 [OMIM

#137192], GABRG2 [OMIM #137164],

NIPA2 [OMIM #608146], SLC2A1

[OMIM #138140])

EDTA-Blut, DNA aus Blut Sequence capture (Agilent),

Sequencing-by synthesis (Illumina),

NextSeq, MiSeq, CLC Genomics

Workbench, GATK

Agammaglobulinämie, hereditäre

(BLNK [OMIM #604515], BTK [OMIM

#300300], CD79A [OMIM #112205],

CD79B [OMIM #147245], IGHM

[OMIM #147020], IGLL1 [OMIM

#146770], LRRC8A [OMIM #608360],

PIK3R1 [OMIM #171833])




Workbench, GATK

Akute Porphyrien (ALAD [OMIM

#125270], CPOX [OMIM #612732],

HMBS [OMIM #609806], PPOX [OMIM

#600923])




Workbench, GATK





Alagille-Syndrom (xG1 [OMIM

#601920], NOTCH2 [OMIM

#600275])




Workbench, GATKAlport Syndrom (COL4A3 [OMIM

#120070], COL4A4 [OMIM #120131],

COL4A5 [OMIM #303630], MYH9

[OMIM #160775])




Workbench, GATK

Alzheimer Erkrankung, familiär

(APP [OMIM #104760], PSEN1 [OMIM

#104311], PSEN2 [OMIM

#600759])




Workbench, GATK

Angeborene Fehlbildungen der Nieren


(ACE [OMIM #106180], ACTA2 [OMIM

#102620], ACTG2 [OMIM #102545],

AGT [OMIM #106150], AGTR1 [OMIM

#106165], AGTR2 [OMIM #300034],

ANOS1 [OMIM #300836], BICC1

[OMIM #614295], BMP4 [OMIM

#112262], BMP7 [OMIM #112267],

CDC5L [OMIM #602868], CHD1L

[OMIM #613039], CHRM3 [OMIM

#118494], DACH1 [OMIM #603803],

DSTYK [OMIM #612666], ETV4 [OMIM

#600711], ETV5 [OMIM #601600],

EYA1 [OMIM #601653], FGF20 [OMIM

#605558], FOXC1 [OMIM #601090],

FOXC2 [OMIM #602402], FRAS1

[OMIM #607830], FREM1 [OMIM

#608944], FREM2 [OMIM #608945],

GATA3 [OMIM #131320], GDNF

[OMIM #600837], GREM1 [OMIM

#603054], GRIP1 [OMIM #604597],

HNF1B [OMIM #189907], HPSE2

[OMIM #613469], ITGA3 [OMIM

#605025], ITGA8 [OMIM #604063],

LRIG2 [OMIM #608869],




Workbench, GATK

Fortsetzung der Zeile auf der nächsten Seite





MUC1 [OMIM #158340], PAX2 [OMIM

#167409], PAX8 [OMIM #167415],

REN [OMIM #179820], RET [OMIM

#164761], ROBO2 [OMIM #602431],

SALL1 [OMIM #602218], SIX1 [OMIM

#601205], SIX2 [OMIM #604994], SIX5

[OMIM #600963], SOX17 [OMIM

#610928], TBX18 [OMIM #604613],

TNXB [OMIM #600985], TRAP1

[OMIM #606219], UMOD [OMIM

#191845], UPK2 [OMIM #611558],

UPK3A [OMIM #611559], WNT4

[OMIM #603490], WT1 [OMIM

#607102], ZIC3 [OMIM #300265])

Angeborene Herzfehler (A2ML1

[OMIM #610627], ACTC1 [OMIM

#102540], ACVR2B [OMIM #602730],

ADAMTS10 [OMIM #608990],

ARHGAP31 [OMIM #610911], BMPR2

[OMIM #600799], BRAF [OMIM

#164757], CBL [OMIM #165360],

CFAP53 [OMIM #614759], CFC1

[OMIM #605194], CHD7 [OMIM

#608892], CITED2 [OMIM #602937],

CREBBP [OMIM #600140], CRELD1

[OMIM #607170], DNAH11 [OMIM

#603339], DNAH5 [OMIM #603335],

DNAI1 [OMIM #604366], DOCK6

[OMIM #614194], DTNA [OMIM

#601239], EHMT1 [OMIM #607001],

ELN [OMIM #130160], EOGT [OMIM

#614789], EP300 [OMIM #602700],

EVC [OMIM #604831], EVC2 [OMIM

#607261], FBN1 [OMIM #134797],

FBN2 [OMIM #612570], FLNA [OMIM

#300017], FOXC1 [OMIM #601090],

FOXH1 [OMIM #603621], FOXP1

[OMIM #605515], GATA4 [OMIM

#600576], GATA5 [OMIM #611496],

GATA6 [OMIM #601656],




Workbench, GATK

Fortsetzung der Zeile von der vorherigen Seite






GDF1 [OMIM #602880], Gx1 [OMIM

#121014], GPC3 [OMIM #300037],

HRAS [OMIM #190020], xG1 [OMIM

#601920], KDM6A [OMIM #300128],

KMT2D [OMIM #602113], KRAS

[OMIM #190070], LEFTY2 [OMIM

#601877], LRP1 [OMIM #107770],

LZTR1 [OMIM #600574], MAP2K1


#601263], MED12 [OMIM #300188],

MED13L [OMIM #608771], MGP

[OMIM #154870], MMP21 [OMIM

#608416], MYH11 [OMIM #160745],

MYH6 [OMIM #160710], NF1 [OMIM

#613113], NIPBL [OMIM #608667],

NKX2-5 [OMIM #600584], NKX2-6

[OMIM #611770], NODAL [OMIM

#601265], NOTCH1 [OMIM #190198],

NOTCH2 [OMIM #600275], NPHP4

[OMIM #607215], NR2F2 [OMIM

#107773], NRAS [OMIM #164790],

NSD1 [OMIM #606681], PITX2 [OMIM

#601542], PKD1L1 [OMIM #609721],

PPP1CB [OMIM #600590], PTPN11

[OMIM #176876], RAF1 [OMIM

#164760], RASA2 [OMIM #601589],

RBM10 [OMIM #300080], RBPJ

[OMIM #147183], RIT1 [OMIM

#609591], RRAS [OMIM #165090],

SALL1 [OMIM #602218], SALL4 [OMIM

#607343], SEMA3E [OMIM #608166],

SHOC2 [OMIM #602775], SMAD6


#182530], SOS2 [OMIM #601247],

SPRED1 [OMIM #609291], SPRY1

[OMIM #602465], TAB2 [OMIM

#605101], TBX1 [OMIM #602054],

TBX20 [OMIM #606061], TBX3 [OMIM

#601621], TBX5 [OMIM #601620],

TFAP2B [OMIM #601601], TGFBR1

[OMIM #190181], TGFBR2 [OMIM

#190182], TLL1 [OMIM #606742],

ZEB2 [OMIM #605802], ZFPM2

[OMIM #603693], ZIC3 [OMIM

#300265])






Arrhythmogene Erkrankungen (ABCC9

[OMIM #601439], ACTC1 [OMIM

#102540], ACTN2 [OMIM #102573],

AKAP9 [OMIM #604001], ANK2

[OMIM #106410], ANKRD1 [OMIM

#609599], BAG3 [OMIM #603883],

CACNA1C [OMIM #114205],

CACNA2D1 [OMIM #114204], CACNB2

[OMIM #600003], CALM1 [OMIM

#114180], CALM2 [OMIM #114182],

CALR3 [OMIM #611414], CASQ2

[OMIM #114251], CAV3 [OMIM

#601253], CRYAB [OMIM #123590],

CSRP3 [OMIM #600824], DES [OMIM

#125660], DMD [OMIM #300377],

DSC2 [OMIM #125645], DSG2 [OMIM

#125671], DSP [OMIM #125647],

FKTN [OMIM #607440], GPD1L [OMIM

#611778], HCN4 [OMIM #605206], ILK

[OMIM #602366], JPH2 [OMIM

#605267], JUP [OMIM #173325],

KCND3 [OMIM #605411], KCNE1

[OMIM #176261], KCNE2 [OMIM

#603796], KCNE3 [OMIM #604433],

KCNE5 [OMIM #300328], KCNH2

[OMIM #152427], KCNJ2 [OMIM

#600681],




Workbench, GATK

KCNJ5 [OMIM #600734], KCNJ8

[OMIM #600935], KCNQ1 [OMIM

#607542], LAMA4 [OMIM #600133],

LAMP2 [OMIM #309060], LDB3

[OMIM #605906], LMNA [OMIM

#150330], MYBPC3 [OMIM #600958],

MYH6 [OMIM #160710], MYH7

[OMIM #160760], MYL2 [OMIM

#160781], MYL3 [OMIM #160790],

MYLK2 [OMIM #606566], MYOZ2

[OMIM #605602], MYPN [OMIM

#608517], NEBL [OMIM #605491],

NEXN [OMIM #613121], PKP2 [OMIM

#602861], PLN [OMIM #172405],

PRDM16 [OMIM #605557], PRKAG2


#164760], RANGRF [OMIM #607954],

RBM20 [OMIM #613171],






RYR2 [OMIM #180902], SCN10A

[OMIM #604427], SCN1B [OMIM

#600235], SCN2B [OMIM #601327],

SCN3B [OMIM #608214], SCN4B


#600163], SGCD [OMIM #601411],

SLMAP [OMIM #602701], SNTA1

[OMIM #601017], TAZ [OMIM

#300394], TCAP [OMIM #604488],

TECRL [OMIM #617242], TGFB3

[OMIM #190230], TMEM43 [OMIM

#612048], TNNC1 [OMIM #191040],

TNNI3 [OMIM #191044], TNNT2

[OMIM #191045], TPM1 [OMIM

#191010], TRDN [OMIM #603283],

TRPM4 [OMIM #606936], TTN [OMIM

#188840], VCL [OMIM #193065])

Arrhythmogene rechtsventrikuläre

Dysplasie (ARVD) (DSC2 [OMIM

#125645], DSG2 [OMIM #125671],

DSP [OMIM #125647], JUP [OMIM

#173325], LMNA [OMIM #150330],

PKP2 [OMIM #602861], TGFB3 [OMIM

#190230], TMEM43 [OMIM #612048])




Workbench, GATK,

Gendosisbestimmung


Dysplasie (ARVD) (DSC2 [OMIM

#125645], DSG2 [OMIM #125671],

DSP [OMIM #125647], JUP [OMIM

#173325], LMNA [OMIM #150330],

PKP2 [OMIM #602861], TGFB3 [OMIM

#190230], TMEM43 [OMIM #612048])




Workbench, GATK

Ataxie mit Okulomotorischer

Apraxie (AR) (APTX [OMIM #606350],

PIK3R5 [OMIM #611317], PNKP

[OMIM #605610],

SETX [OMIM #608465])




Workbench, GATK






Ataxien (ABCB7 [OMIM #300135],

ABHD12 [OMIM #613599], ADCK3

[OMIM #606980], ADGRG1 [OMIM

#604110], AFG3L2 [OMIM #604581],

AHI1 [OMIM #608894], ANO10

[OMIM #613726], APTX [OMIM

#606350], ARL13B [OMIM #608922],

ATM [OMIM #607585], ATP8A2

[OMIM #605870], ATXN10 [OMIM

#611150], C5orf42 [OMIM #614571],

CA8 [OMIM #114815], CACNA1A

[OMIM #601011], CACNA1G [OMIM

#604065], CACNB4 [OMIM #601949],

CAPN1 [OMIM #114220], CC2D2A

[OMIM #612013], CCDC88C [OMIM

#611204], CEP290 [OMIM #610142],

CEP41 [OMIM #610523], CLCN2

[OMIM #600570], CLN5 [OMIM

#608102], CLN6 [OMIM #606725],

CSPP1 [OMIM #611654], DARS2

[OMIM #610956], DNAJC5 [OMIM

#611203], DNMT1 [OMIM #126375],

EEF2 [OMIM #130610], EIF2B1 [OMIM

#606686], EIF2B2 [OMIM #606454],

EIF2B3 [OMIM #606273], EIF2B4

[OMIM #606687], EIF2B5 [OMIM

#603945], ELOVL4 [OMIM #605512],

ELOVL5 [OMIM #611805],




Workbench, GATK

FGF14 [OMIM #601515], FLVCR1

[OMIM #609144], GBA2 [OMIM

#609471], GJB1 [OMIM #304040],

GLRB [OMIM #138492], GOSR2

[OMIM #604027], GRID2 [OMIM

#602368], GRM1 [OMIM #604473],

INPP5E [OMIM #613037], ITPR1

[OMIM #147265], KCNA1 [OMIM

#176260], KCNC3 [OMIM #176264],

KCND3 [OMIM #605411], KIAA0586

[OMIM #610178], KIF1C [OMIM

#603060], KIF7 [OMIM #611254],

MARS2 [OMIM #609728], MRE11A

[OMIM #600814], MTPAP [OMIM

#613669], NPC1 [OMIM #607623],

NPC2 [OMIM #601015], NPHP1

[OMIM #607100],






OFD1 [OMIM #300170], OPA1 [OMIM

#605290], PDE6D [OMIM #602676],

PDYN [OMIM #131340], PEX10

[OMIM #602859], PEX2 [OMIM

#170993], PIK3R5 [OMIM #611317],

PLA2G6 [OMIM #603604], PNKP

[OMIM #605610], PNPLA6 [OMIM

#603197], POC1B [OMIM #614784],

POLG [OMIM #174763], PRKCG

[OMIM #176980], PRNP [OMIM #176640], RPGRIP1L

[OMIM #610937], SACS [OMIM

#604490], SCN2A [OMIM #182390],

SETX [OMIM #608465], SIL1 [OMIM

#608005], SLC1A3 [OMIM #600111],

SNX14 [OMIM #616105], SPG7 [OMIM

#602783], SPTBN2 [OMIM #604985],

STUB1 [OMIM #607207], SYNE1

[OMIM #608441], SYT14 [OMIM

#610949], TCTN1 [OMIM #609863],

TCTN2 [OMIM #613846], TCTN3

[OMIM #613847], TDP1 [OMIM

#607198], TGM6 [OMIM #613900],

TMEM138 [OMIM #614459],

TMEM216 [OMIM #613277],

TMEM231 [OMIM #614949],

TMEM237 [OMIM #614423],

TMEM240 [OMIM #616101], TMEM67

[OMIM #609884], TRPC3 [OMIM

#602345], TTBK2 [OMIM #611695],

TTC21B [OMIM #612014], VAMP1

[OMIM #185880], VLDLR [OMIM

#192977], WWOX [OMIM #605131],

ZNF423 [OMIM #604557])






Ataxien, syndromale Formen (ABCB7

[OMIM #300135], ABHD12 [OMIM

#613599], ADCK3 [OMIM #606980],

ADGRG1 [OMIM #604110], AHI1

[OMIM #608894], ARL13B [OMIM

#608922], ATM [OMIM #607585],

ATP8A2 [OMIM #605870], ATXN10

[OMIM #611150], C5orf42 [OMIM

#614571], CA8 [OMIM #114815],

CC2D2A [OMIM #612013], CEP290

[OMIM #610142], CEP41 [OMIM

#610523], CLCN2 [OMIM #600570],

CLN5 [OMIM #608102], CLN6 [OMIM

#606725], CSPP1 [OMIM #611654],

DARS2 [OMIM #610956], DNMT1

[OMIM #126375], FLVCR1 [OMIM

#609144], GJB1 [OMIM #304040],

GOSR2 [OMIM #604027], INPP5E

[OMIM #613037], KIAA0586 [OMIM

#610178], KIF7 [OMIM #611254],

MRE11A [OMIM #600814], NPC1

[OMIM #607623], NPC2 [OMIM

#601015],




Workbench, GATK

NPHP1 [OMIM #607100], OFD1

[OMIM #300170], OPA1 [OMIM

#605290], PDE6D [OMIM #602676],

PEX10 [OMIM #602859], PEX2 [OMIM

#170993], PLA2G6 [OMIM #603604],

PNPLA6 [OMIM #603197], POC1B

[OMIM #614784], POLG [OMIM

#174763], RPGRIP1L [OMIM

#610937], SACS [OMIM #604490],

SIL1 [OMIM #608005], TCTN1 [OMIM

#609863], TCTN2 [OMIM #613846],

TCTN3 [OMIM #613847], TMEM138


#613277], TMEM231 [OMIM

#614949], TMEM237 [OMIM

#614423], TMEM67 [OMIM #609884],

TTC21B [OMIM #612014], VLDLR

[OMIM #192977], ZNF423 [OMIM

#604557])





Augenerkrankungen (ABCA4 [OMIM

#601691], ADGRV1 [OMIM #602851],

ALMS1 [OMIM #606844], ARL6

[OMIM #608845], BBIP1 [OMIM

#613605], BBS1 [OMIM #209901],

BBS10 [OMIM #610148], BBS12

[OMIM #610683], BBS2 [OMIM

#606151], BBS4 [OMIM #600374],

BBS5 [OMIM #603650], BBS7 [OMIM

#607590], BBS9 [OMIM #607968],

BEST1 [OMIM #607854], C2orf71


#614477], CA4 [OMIM #114760],

CCDC28B [OMIM #610162], CDH23

[OMIM #605516], CDHR1 [OMIM

#609502], CEP290 [OMIM #610142],

CERKL [OMIM #608381], CIB2 [OMIM

#605564], CLRN1 [OMIM #606397],

CNGA1 [OMIM #123825], CNGB1

[OMIM #600724], COL11A1 [OMIM

#120280], COL2A1 [OMIM #120140],




Workbench, GATK


[OMIM #120260], CRB1 [OMIM

#604210], DHDDS [OMIM #608172],

EYS [OMIM #612424], FAM161A

[OMIM #613596], FSCN2 [OMIM

#607643], GUCA1B [OMIM #602275],

HARS [OMIM #142810], IDH3B [OMIM

#604526], IFT172 [OMIM #607386],

IFT27 [OMIM #615870], IFT74 [OMIM

#608040], IMPDH1 [OMIM #146690],

IMPG2 [OMIM #607056], INVS [OMIM

#243305], IQCB1 [OMIM #609237],

KIZ [OMIM #615757], KLHL7 [OMIM

#611119], LZTFL1 [OMIM #606568],

MAK [OMIM #154235], MERTK

[OMIM #604705], MKKS [OMIM

#604896], MKS1 [OMIM #609883],

MYO7A [OMIM #276903], NEK2

[OMIM #604043], NPHP1 [OMIM

#607100], NPHP3 [OMIM #608002],

NPHP4 [OMIM #607215], NR2E3

[OMIM #604485], NRL [OMIM

#162080], OFD1 [OMIM #300170],






PCDH15 [OMIM #605514], PDE6A

[OMIM #180071], PDE6B [OMIM

#180072], PDE6G [OMIM #180073],

PDZD7 [OMIM #612971], PRCD

[OMIM #610598], PROM1 [OMIM

#604365], PRPF3 [OMIM #607301],

PRPF31 [OMIM #606419], PRPF4

[OMIM #607795], PRPF6 [OMIM

#613979], PRPF8 [OMIM #607300],

PRPH2 [OMIM #179605], RBP3

[OMIM #180290], RGR [OMIM

#600342], RHO [OMIM #180380],

ROM1 [OMIM #180721], RP1 [OMIM

#603937], RP2 [OMIM #300757], RP9

[OMIM #607331], RPE65 [OMIM

#180069], RPGR [OMIM #312610],

SAG [OMIM #181031], SDCCAG8

[OMIM #613524], SEMA4A [OMIM

#607292], SLC7A14 [OMIM #615720],

SNRNP200 [OMIM #601664],

TMEM67 [OMIM #609884], TOPORS

[OMIM #609507], TRAF3IP1 [OMIM

#607380],

TRIM32 [OMIM #602290], TTC8

[OMIM #608132], TULP1 [OMIM

#602280], USH1C [OMIM #605242],


[OMIM #608400], WDPCP [OMIM

#613580], WDR19 [OMIM #608151],

WHRN [OMIM #607928], ZNF408

[OMIM #616454], ZNF513 [OMIM

#613598])






Autismus (ALDH5A1 [OMIM #610045],

AP1S2 [OMIM #300629], ARX [OMIM

#300382], ATRX [OMIM #300032],

AUTS2 [OMIM #607270], BRAF [OMIM

#164757], CACNA1C [OMIM

#114205], CASK [OMIM #300172],

CDKL5 [OMIM #300203], CHD7


#610528], CNTNAP2 [OMIM

#604569], DHCR7 [OMIM #602858],

DPP6 [OMIM #126141], EHMT1

[OMIM #607001], FGD1 [OMIM

#300546], FOXG1 [OMIM #164874],

FOXP1 [OMIM #605515], FOXP2

[OMIM #605317], GRIN2B [OMIM

#138252], HPRT1 [OMIM #308000],

KDM5C [OMIM #314690], L1CAM

[OMIM #308840], MBD5 [OMIM

#611472], MECP2 [OMIM #300005],

MED12 [OMIM #300188], MEF2C

[OMIM #600662], MID1 [OMIM

#300552], NHS [OMIM #300457],

NIPBL [OMIM #608667], NLGN3

[OMIM #300336], NLGN4X [OMIM

#300427], NRXN1 [OMIM #600565],

NSD1 [OMIM #606681], OPHN1

[OMIM #300127], PCDH19 [OMIM

#300460],




Workbench, GATK

PHF6 [OMIM #300414], PNKP [OMIM

#605610], PQBP1 [OMIM #300463],

PTCHD1 [OMIM #300828], PTEN

[OMIM #601728], PTPN11 [OMIM

#176876], RAB39B [OMIM #300774],

RAI1 [OMIM #607642], SCN1A [OMIM

#182389], SHANK2 [OMIM #603290],

SHANK3 [OMIM #606230], SLC9A6

[OMIM #300231], SMARCB1 [OMIM

#601607], SMC1A [OMIM #300040],

SMC3 [OMIM #606062], TCF4 [OMIM

#602272], TSC1 [OMIM #605284],

TSC2 [OMIM #191092], UBE2A [OMIM

#312180], UBE3A [OMIM #601623],

VPS13B [OMIM #607817], ZEB2

[OMIM #605802])





Autismus (CACNA1C [OMIM

#114205], CDKL5 [OMIM #300203],

FOXP1 [OMIM #605515], MECP2

[OMIM #300005], PTEN [OMIM

#601728], TCF4 [OMIM #602272],

UBE3A [OMIM #601623], ZEB2 [OMIM

#605802])




Workbench, GATK

Autismus (ALDH5A1 [OMIM #610045],

AP1S2 [OMIM #300629], ARX [OMIM

#300382], ATRX [OMIM #300032],

AUTS2 [OMIM #607270], BRAF [OMIM

#164757], CASK [OMIM #300172],

CHD7 [OMIM #608892], CHD8 [OMIM


#604569], DHCR7 [OMIM #602858],

DPP6 [OMIM #126141], EHMT1

[OMIM #607001], FGD1 [OMIM

#300546], FOXG1 [OMIM #164874],

FOXP2 [OMIM #605317], GRIN2B

[OMIM #138252], HPRT1 [OMIM

#308000], KDM5C [OMIM #314690],

L1CAM [OMIM #308840], MBD5

[OMIM #611472], MED12 [OMIM

#300188], MEF2C [OMIM #600662],

MID1 [OMIM #300552], NHS [OMIM

#300457], NIPBL [OMIM #608667],

NLGN3 [OMIM #300336], NLGN4X

[OMIM #300427], NRXN1 [OMIM

#600565], NSD1 [OMIM #606681],

OPHN1 [OMIM #300127], PCDH19

[OMIM #300460], PHF6 [OMIM

#300414], PNKP [OMIM #605610],

PQBP1 [OMIM #300463], PTCHD1


#176876],




Workbench, GATK

RAB39B [OMIM #300774], RAI1


#182389], SHANK2 [OMIM #603290],

SHANK3 [OMIM #606230], SLC9A6

[OMIM #300231], SMARCB1 [OMIM

#601607], SMC1A [OMIM #300040],

SMC3 [OMIM #606062], TSC1 [OMIM

#605284], TSC2 [OMIM #191092],

UBE2A [OMIM #312180], VPS13B

[OMIM #607817])





Autosomal-dominante

Spinocerebelläre Ataxien (ADGRG1

[OMIM #604110], AFG3L2 [OMIM

#604581], CACNA1A [OMIM

#601011], CACNA1G [OMIM

#604065], CACNB4 [OMIM #601949],

CCDC88C [OMIM #611204], DNAJC5

[OMIM #611203], DNMT1 [OMIM

#126375], EEF2 [OMIM #130610],

ELOVL4 [OMIM #605512], ELOVL5

[OMIM #611805], FGF14 [OMIM

#601515], GBA2 [OMIM #609471],

ITPR1 [OMIM #147265], KCNA1

[OMIM #176260], KCNC3 [OMIM

#176264], KCND3 [OMIM #605411],

PDYN [OMIM #131340], PEX10


#170993], PRKCG [OMIM #176980],

SCN2A [OMIM #182390], SLC1A3

[OMIM #600111], SPTBN2 [OMIM

#604985], SYT14 [OMIM #610949],

TGM6 [OMIM #613900], TMEM240


#602345], TTBK2 [OMIM #611695],

VAMP1 [OMIM #185880], VLDLR

[OMIM #192977])




Workbench, GATK





Autosomal-rezessive Spinocerebelläre

Ataxien (ABCB7 [OMIM #300135],

ADCK3 [OMIM #606980], ADGRG1

[OMIM #604110], AFG3L2 [OMIM

#604581], AHI1 [OMIM #608894],

ANO10 [OMIM #613726], APTX


#608922], ATP8A2 [OMIM #605870],

ATXN10 [OMIM #611150], C5orf42

[OMIM #614571], CA8 [OMIM


#604065], CC2D2A [OMIM #612013],

CEP290 [OMIM #610142], CEP41

[OMIM #610523], CLCN2 [OMIM

#600570], CLN5 [OMIM #608102],

CSPP1 [OMIM #611654], DARS2


#611203], EIF2B1 [OMIM #606686],



#606687], EIF2B5 [OMIM #603945],

FLVCR1 [OMIM #609144], GBA2

[OMIM #609471], GOSR2 [OMIM

#604027], GRID2 [OMIM #602368],

GRM1 [OMIM #604473], INPP5E


#610178], KIF1C [OMIM #603060],




Workbench, GATK

KIF7 [OMIM #611254], MARS2 [OMIM

#609728], MRE11A [OMIM #600814],

MTPAP [OMIM #613669], NPC2


#607100], OPA1 [OMIM #605290],

PDE6D [OMIM #602676], PEX10


#170993], PIK3R5 [OMIM #611317],

PNKP [OMIM #605610], PNPLA6

[OMIM #603197], POC1B [OMIM

#614784], POLG [OMIM #174763],

RPGRIP1L [OMIM #610937], SACS

[OMIM #604490], SETX [OMIM

#608465], SIL1 [OMIM #608005],

SNX14 [OMIM #616105], SPG7 [OMIM

#602783], SPTBN2 [OMIM #604985],

STUB1 [OMIM #607207], SYNE1

[OMIM #608441], SYT14 [OMIM

#610949],






TCTN1 [OMIM #609863], TCTN2

[OMIM #613846], TCTN3 [OMIM

#613847], TDP1 [OMIM #607198],

TMEM138 [OMIM #614459],

TMEM216 [OMIM #613277],

TMEM231 [OMIM #614949],


[OMIM #609884], TTC21B [OMIM

#612014], VLDLR [OMIM #192977],

WWOX [OMIM #605131], ZNF423

[OMIM #604557])

Bardet-Biedl-Syndrom (ALMS1 [OMIM

#606844], ARL6 [OMIM #608845],

BBIP1 [OMIM #613605], BBS1 [OMIM

#209901], BBS10 [OMIM #610148],


#606151], BBS4 [OMIM #600374],


#607590], BBS9 [OMIM #607968],

CCDC28B [OMIM #610162], CEP290

[OMIM #610142], IFT172 [OMIM

#607386], IFT27 [OMIM #615870],

IFT74 [OMIM #608040], LZTFL1

[OMIM #606568], MKKS [OMIM

#604896], MKS1 [OMIM #609883],

NPHP1 [OMIM #607100], SDCCAG8


#609884], TRIM32 [OMIM #602290],

TTC8 [OMIM #608132], WDPCP

[OMIM #613580])




Workbench, GATK

Bardet-Biedl-Syndrom (ARL6 [OMIM

#608845], BBIP1 [OMIM #613605],


#610148], BBS12 [OMIM #610683],


#600374], BBS5 [OMIM #603650],


#607968], IFT27 [OMIM #615870],

LZTFL1 [OMIM #606568], MKKS

[OMIM #604896], MKS1 [OMIM

#609883], TRIM32 [OMIM #602290],

TTC8 [OMIM #608132])




Workbench, GATK






Bardet-Biedl-Syndrom (ALMS1 [OMIM

#606844], CCDC28B [OMIM #610162],

CEP290 [OMIM #610142], IFT172

[OMIM #607386], IFT74 [OMIM

#608040], NPHP1 [OMIM #607100],

SDCCAG8 [OMIM #613524], TMEM67


#613580])




Workbench, GATK

Benigne familiäre Epilepsie (neonatal,

infantil) (CHRNA2 [OMIM #118502],

KCNQ2 [OMIM #602235], KCNQ3

[OMIM #602232], PRRT2 [OMIM

#614386], SCN2A [OMIM #182390],

SCN8A [OMIM #600702])




Workbench, GATK

Bikuspide Aortenklappe, mit Risiko

für Aortenstenose und

Aortenstenose/ -dilatation (GATA5

[OMIM #611496], NOTCH1 [OMIM

#190198], SMAD6 [OMIM #602931])




Workbench, GATK,

Gendosisbestimmung

Bikuspide Aortenklappe, mit Risiko für

Aortenstenose und Aortenstenose/ -

dilatation (GATA5 [OMIM #611496],

NOTCH1 [OMIM #190198], SMAD6

[OMIM #602931])




Workbench, GATK





Bindegewebserkrankungen /

Aortenerkrankungen (ACTA2 [OMIM

#102620], ADAMTS2 [OMIM

#604539], ADAMTSL4 [OMIM

#610113], ALDH18A1 [OMIM

#138250], ATP6V0A2 [OMIM

#611716], ATP6V1A [OMIM #607027],

ATP6V1E1 [OMIM #108746], B3GALT6

[OMIM #615291], B4GALT7 [OMIM

#604327], BGN [OMIM #301870], C1R

[OMIM #613785], C1S [OMIM

#120580], CHST14 [OMIM #608429],



#120160], COL3A1 [OMIM #120180],



#303630], COL5A1 [OMIM #120215],



#120220], COL6A2 [OMIM #120240],

COL6A3 [OMIM #120250], DSE [OMIM

#605942], EFEMP2 [OMIM #604633],

ELN [OMIM #130160], EMILIN1

[OMIM #130660], FBLN5 [OMIM

#604580], FBN1 [OMIM #134797],




Workbench, GATK

FBN2 [OMIM #612570], FKBP14

[OMIM #614505], FLNA [OMIM

#300017], FOXE3 [OMIM #601094],

GATA5 [OMIM #611496], LOX [OMIM

#153455], LTBP2 [OMIM #602091],

LTBP4 [OMIM #604710], MAT2A


#300188], MFAP5 [OMIM #601103],

MYH11 [OMIM #160745], MYLK


#190198], PHYKPL [OMIM #614683],

PLOD1 [OMIM #153454], PLOD3

[OMIM #603066], PRDM5 [OMIM

#614161], PRKG1 [OMIM #176894],

PYCR1 [OMIM #179035], SKI [OMIM

#164780], SLC2A10 [OMIM #606145],

SLC39A13 [OMIM #608735], SMAD2

[OMIM #601366], SMAD3 [OMIM

#603109], SMAD4 [OMIM #600993],






SMAD6 [OMIM #602931], TGFB2

[OMIM #190220], TGFB3 [OMIM

#190230], TGFBR1 [OMIM #190181],

TGFBR2 [OMIM #190182], TNXB

[OMIM #600985], UPF3B [OMIM

#300298], ZDHHC9 [OMIM #300646],

ZNF469 [OMIM #612078])

Bindegewebserkrankungen /

Skeletterkrankungen (ALX4 [OMIM

#605420], BMP1 [OMIM #112264],

BMP4 [OMIM #112262], CCBE1

[OMIM #612753], CEP120 [OMIM

#613446], COL11A1 [OMIM #120280],



#120160], COL2A1 [OMIM #120140],


[OMIM #120260], CRTAP [OMIM

#605497], CSPP1 [OMIM #611654],

DYNC2H1 [OMIM #603297], DYNC2LI1

[OMIM #617083], EFNB1 [OMIM

#300035], ERF [OMIM #611888],

ESCO2 [OMIM #609353], EVC [OMIM

#604831], EVC2 [OMIM #607261],

FGFR1 [OMIM #136350], FGFR2

[OMIM #176943], FGFR3 [OMIM

#134934], FKBP10 [OMIM #607063],

FREM1 [OMIM #608944], GLI3 [OMIM

#165240], IFITM5 [OMIM #614757],

IFT122 [OMIM #606045], IFT140

[OMIM #614620], IFT172 [OMIM

#607386], IFT43 [OMIM #614068],

IFT52 [OMIM #617094],




Workbench, GATK







IFT80 [OMIM #611177], IL11RA

[OMIM #600939], IMPAD1 [OMIM

#614010], IRX5 [OMIM #606195],

KIAA0586 [OMIM #610178], KRAS

[OMIM #190070], LEPRE1 [OMIM

#610339], MEGF8 [OMIM #604267],

MSX2 [OMIM #123101], MYH3

[OMIM #160720], NEK1 [OMIM

#604588], P3H1 [OMIM #610339],

P4HB [OMIM #176790], PLOD2

[OMIM #601865], POR [OMIM

#124015], PPIB [OMIM #123841],

RAB23 [OMIM #606144], RECQL4

[OMIM #603780], SCARF2 [OMIM

#613619], SEC24D [OMIM #607186],

SERPINF1 [OMIM #172860], SERPINH1

[OMIM #600943], SKI [OMIM

#164780], SP7 [OMIM #606633],

SPECC1L [OMIM #614140],

STAT3 [OMIM #102582], TCF12


#613847], TGFBR1 [OMIM #190181],

TGFBR2 [OMIM #190182], TMEM38B


#612014], TWIST1 [OMIM #601622],

WDR19 [OMIM #608151], WDR34

[OMIM #613363], WDR35 [OMIM

#613602], WDR60 [OMIM #615462],

WNT1 [OMIM #164820])

Blutungsneigung (F13A1 [OMIM

#134570], F13B [OMIM #134580], F7

[OMIM #613878], F8 [OMIM

#300841], F9 [OMIM #300746], VWF

[OMIM #613160])




Workbench, GATK

BRCAcore- (ATM [OMIM #607585],

BRCA1 [OMIM #113705], BRCA2

[OMIM #600185], CDH1 [OMIM

#192090], CHEK2 [OMIM # 604373],

MLH1 [OMIM #120436], MSH2

[OMIM #609309], MSH6 [OMIM

#600678], NBN [OMIM #602667],

PALB2 [OMIM #610355], RAD51C

[OMIM #602774], RAD51D [OMIM

#602954], STK11 [OMIM #602216],

TP53 [OMIM #191170])

EDTA-Blut, EDTA-Knochenmark,

Lithium-Heparin-Blut, Lithium-Heparin-

Knochenmark, DNA aus Blut und

Knochenmark

Ampliseq, NGS (semiconductor

sequencing, Ion PGM-System

Thermofisher)






Brugada-Syndrom (BrS) (CACNA1C

[OMIM #114205], CACNB2 [OMIM

#600003], GPD1L [OMIM #611778],

KCNE3 [OMIM #604433], SCN1B


#600163], TRPM4 [OMIM #606936])




Workbench, GATK,

Gendosisbestimmung

Brugada-Syndrom (BrS) (ABCC9

[OMIM #601439], CACNA1C [OMIM

#114205], CACNA2D1 [OMIM

#114204], CACNB2 [OMIM #600003],

GPD1L [OMIM #611778], HCN4

[OMIM #605206], KCND3 [OMIM

#605411], KCNE3 [OMIM #604433],



#600935], RANGRF [OMIM #607954],

SCN10A [OMIM #604427], SCN1B


#601327], SCN3B [OMIM #608214],

SCN5A [OMIM #600163], SLMAP

[OMIM #602701], TRPM4 [OMIM

#606936])




Workbench, GATK

Brugada-Syndrom (BrS) (CACNA1C


#600003], GPD1L [OMIM #611778],

KCNE3 [OMIM #604433], SCN1B


#600163], TRPM4 [OMIM #606936])




Workbench, GATK

Brugada-Syndrom (BrS) (ABCC9

[OMIM #601439], CACNA1C [OMIM

#114205], CACNA2D1 [OMIM

#114204], CACNB2 [OMIM #600003],



#605411], KCNE3 [OMIM #604433],



#600935], RANGRF [OMIM #607954],

SCN10A [OMIM #604427], SCN1B


#601327], SCN3B [OMIM #608214],

SCN5A [OMIM #600163], SLMAP

[OMIM #602701], TRPM4 [OMIM

#606936])




Workbench, GATK





Brustkrebs (BRCA1 [OMIM # 113705],

BRCA2 [OMIM #600185], CHEK2

[OMIM #604373], PALB2 [OMIM

#610355], RAD51C [OMIM #602774])




Workbench, GATK

Brustkrebs (ATM [OMIM # 607585],

CDH1 [OMIM #192090], NBN [OMIM

#602667], RAD51D [OMIM #602954],

TP53 [OMIM #191170])




Workbench, GATK



#190070], MAP2K1 [OMIM #176872],

MAP2K2 [OMIM #601263])




Workbench, GATK



#190070], MAP2K1 [OMIM #176872],

MAP2K2 [OMIM #601263])




Workbench, GATK,

GendosisbestimmungCatecholaminerge polymorphe

ventrikuläre Tachykardie (CPVT)

(CALM1 [OMIM #114180], CASQ2


#600681], RYR2 [OMIM #180902])




Workbench, GATK

Catecholaminerge polymorphe

ventrikuläre Tachykardie (CPVT)

(CALM1 [OMIM #114180], CASQ2


#600681], RYR2 [OMIM #180902])




Workbench, GATK,

Gendosisbestimmung





CDG-Syndrom (ALG1 [OMIM

#605907], ALG11 [OMIM #613666],

ALG12 [OMIM #607144], ALG13

[OMIM #300776], ALG2 [OMIM

#607905], ALG3 [OMIM #608750],

ALG6 [OMIM #604566], ALG8 [OMIM

#608103], ALG9 [OMIM #606941],

B4GALT1 [OMIM #137060], CAD

[OMIM #114010], CCDC115 [OMIM

#613734], COG1 [OMIM #606973],

COG4 [OMIM #606976], COG5 [OMIM

#606821], COG6 [OMIM #606977],


#606979], DDOST [OMIM #602202],

DOLK [OMIM #610746], DPAGT1

[OMIM #191350], DPM1 [OMIM

#603503], DPM2 [OMIM #603564],

DPM3 [OMIM #605951], MGAT2

[OMIM #602616], MOGS [OMIM

#601336], MPDU1 [OMIM #604041],

MPI [OMIM #154550], NGLY1 [OMIM

#610661], PGM1 [OMIM #171900],

PMM2 [OMIM #601785], RFT1 [OMIM

#611908], SLC35A1 [OMIM #605634],

SLC35A2 [OMIM #314375], SLC35C1

[OMIM #605881], SLC39A8 [OMIM

#608732],




Workbench, GATK

SRD5A3 [OMIM #611715], SSR4

[OMIM #300090], STT3A [OMIM

#601134], STT3B [OMIM #608605],

TMEM165 [OMIM #614726],

TMEM199 [OMIM #616815], TUSC3

[OMIM #601385])


#607144], ALG3 [OMIM #608750],


#608103], DPM1 [OMIM #603503],

MOGS [OMIM #601336], MPDU1

[OMIM #604041], MPI [OMIM

#154550], PMM2 [OMIM #601785],

SLC35C1 [OMIM #605881], SRD5A3

[OMIM #611715], TUSC3 [OMIM

#601385])




Workbench, GATK






#605907], ALG11 [OMIM #613666],


#607905], ALG9 [OMIM #606941],



#613734], COG1 [OMIM #606973],


#606821], COG6 [OMIM #606977],


#606979], DDOST [OMIM #602202],



#603564], DPM3 [OMIM #605951],

MGAT2 [OMIM #602616], NGLY1

[OMIM #610661], PGM1 [OMIM

#171900], RFT1 [OMIM #611908],

SLC35A1 [OMIM #605634], SLC35A2


#608732], SSR4 [OMIM #300090],

STT3A [OMIM #601134], STT3B


#614726], TMEM199 [OMIM

#616815])




Workbench, GATK

cfBreast- (AKT1 [OMIM #164730],

EGFR [OMIM #131550], ERBB2 [OMIM

#164870], ERBB3 [OMIM #190151],

ESR1 [OMIM #133430], FBXW7

[OMIM #606278], KRAS [OMIM

#190070], PIK3CA [OMIM #171834],

SF3B1 [OMIM #605590], TP53 [OMIM

#191170])

BCT-Blut, DNA aus FFPE-Gewebe, DNA

aus Blut und Tumorgewebe

Oncomine, NGS semiconductor

sequencing, Ion PGM-

System,TorrentServer (Thermofisher)

cfColon- (AKT1 [OMIM #164730], APC

[OMIM #611731], BRAF [OMIM

#164757], CTNNB1 [OMIM #116806],

EGFR [OMIM #131550], ERBB2 [OMIM

#164870], FBXW7 [OMIM #606278],

GNAS [OMIM #139320], KRAS [OMIM

#190070], MAP2K1 [OMIM #176872],

NRAS [OMIM #164790], PIK3CA


#600993], TP53 [OMIM #191170])

BCT-Blut, DNA aus FFPE-Gewebe, DNA









cfLung- (ALK [OMIM #105590], BRAF

[OMIM #164757], EGFR [OMIM

#131550], ERBB2 [OMIM #164870],

KRAS [OMIM #190070], MAP2K1

[OMIM #176872], MET [OMIM

#164860], NRAS [OMIM #164790],

PIK3CA [OMIM #171834], ROS1

[OMIM #165020], TP53 [OMIM

#191170])

BCT-Blut DNA aus FFPE-Gewebe, DNA





Charcot-Marie-Tooth-Neuropathien

Typ 1 und Typ 2 (CMT1; CMT2) (ATL1

[OMIM #606439], DNM2 [OMIM

#602378], EGR2 [OMIM #129010],

GARS [OMIM #600287], GDAP1

[OMIM #606598], HSPB1 [OMIM

#602195], IGHMBP2 [OMIM

#600502], KIF1B [OMIM #605995],

LITAF [OMIM #603795], MFN2 [OMIM

#608507], MPZ [OMIM #159440],

NEFL [OMIM #162280], NGF [OMIM

#162030], PMP22 [OMIM #601097],

RAB7A [OMIM #602298])




Workbench, GATK

Choreatiforme Bewegungsstörungen

(ADCY5 [OMIM #600293], ARSA

[OMIM #607574], ATM [OMIM

#607585], ATN1 [OMIM #607462],

ATXN1 [OMIM #601556], ATXN2


#607047], ATXN7 [OMIM #607640],

FRRS1L [OMIM #604574], FTL [OMIM

#134790], GM2A [OMIM #613109],

GNAO1 [OMIM #139311], KCNA1

[OMIM #176260], NKX2-1 [OMIM

#600635], OPA3 [OMIM #606580],

PDE10A [OMIM #610652], PRNP

[OMIM #176640], RNF216 [OMIM

#609948], SETX [OMIM #608465], TBP

[OMIM #600075], VPS13A [OMIM

#605978], XK [OMIM #314850])




Workbench, GATK






Stufe II (ADCY5 [OMIM #600293],

ARSA [OMIM #607574], FRRS1L

[OMIM #604574], GM2A [OMIM

#613109], GNAO1 [OMIM #139311],

KCNA1 [OMIM #176260], NKX2-1

[OMIM #600635], PRNP [OMIM

#176640], RNF216 [OMIM #609948],

VPS13A [OMIM #605978], XK [OMIM

#314850])




Workbench, GATK


(ATM [OMIM #607585], FTL [OMIM

#134790], PDE10A [OMIM #610652],

SETX [OMIM #608465])




Workbench, GATK

CMT Typ 2, axonal, autosomal-

dominant (AARS [OMIM #601065],

DYNC1H1 [OMIM #600112], GDAP1


#602195], HSPB8 [OMIM #608014],

LRSAM1 [OMIM #610933], MFN2

[OMIM #608507], MPZ [OMIM

#159440])




Workbench, GATK

Coffin-Siris Syndrom (ARID1A [OMIM

#603024], ARID1B [OMIM #614556],

SMARCA4 [OMIM #603254],

SMARCB1 [OMIM #601607],

SMARCE1 [OMIM #603111], SOX11

[OMIM #600898])




Workbench, GATK

Colon und Lunge- (AKT1 [OMIM

#164730], BRAF [OMIM #164757],

CTNNB1 [OMIM #116806], DDR2

[OMIM #191311], EGFR [OMIM

#131550], ERBB2 [OMIM #164870],

ERBB4 [OMIM #600543], FBXW7


#136350], FGFR2 [OMIM #176943],

FGFR3 [OMIM #134934], KRAS [OMIM

#190070], MAP2K1 [OMIM #176872],

MET [OMIM #164860], NOTCH1

[OMIM #190198], NRAS [OMIM

#164790], PIK3CA [OMIM #171834],

PTEN [OMIM #601728], SMAD4

[OMIM #600993], STK11 [OMIM

#602216], TP53 [OMIM #191170])

DNA aus FFPE-Gewebe, DNA aus

Tumorgewebe

Ampliseq, NGS semiconductor


(Thermofisher), JSI medical systems

SeqNext





Congenitale Defekte der

Glykosylierung (CDG) (ALG1 [OMIM

#605907], ALG11 [OMIM #613666],

ALG12 [OMIM #607144], ALG13


#607905], ALG3 [OMIM #608750],


#608103], ALG9 [OMIM #606941],



#613734], COG1 [OMIM #606973],


#606821], COG6 [OMIM #606977],


#606979], DDOST [OMIM #602202],



#603503], DPM2 [OMIM #603564],

DPM3 [OMIM #605951], MGAT2

[OMIM #602616], MOGS [OMIM

#601336], MPDU1 [OMIM #604041],

MPI [OMIM #154550], NGLY1 [OMIM

#610661], PGM1 [OMIM #171900],

PMM2 [OMIM #601785], RFT1 [OMIM

#611908],




Workbench, GATK

SLC35A1 [OMIM #605634], SLC35A2

[OMIM #314375], SLC35C1 [OMIM

#605881], SLC39A8 [OMIM #608732],

SRD5A3 [OMIM #611715], SSR4

[OMIM #300090], STT3A [OMIM

#601134], STT3B [OMIM #608605],

TMEM165 [OMIM #614726],


[OMIM #601385])

Congenitale Defekte der

Glykosylierung (CDG) (ALG12 [OMIM

#607144], ALG3 [OMIM #608750],


#608103], DPM1 [OMIM #603503],



#154550], PMM2 [OMIM #601785],

SLC35C1 [OMIM #605881], SRD5A3

[OMIM #611715], TUSC3 [OMIM

#601385])




Workbench, GATK





Core-Myopathien (ACTA1 [OMIM

#102610], BIN1 [OMIM #601248],

DNM2 [OMIM #602378], MTM1

[OMIM #300415], RYR1 [OMIM

#180901], SEPN1 [OMIM #606210],

TPM2 [OMIM #190990], TPM3 [OMIM

#191030], TTN [OMIM #188840])




Workbench, GATK

Core-Myopathien Stufe I (RYR1

[OMIM #180901])




Workbench, GATK

Core-Myopathien Stufe II (ACTA1

[OMIM #102610], BIN1 [OMIM

#601248], DNM2 [OMIM #602378],

MTM1 [OMIM #300415], SEPN1


#191030])




Workbench, GATK

Core-Myopathien (TPM2 [OMIM

#190990], TTN [OMIM #188840])




Workbench, GATK

Cornelia-de-Lange-Syndrom (HDAC8

[OMIM #300269], NIPBL [OMIM

#608667], RAD21 [OMIM #606462],

SMC1A [OMIM #300040], SMC3

[OMIM #606062])




Workbench, GATK

Costello-Syndrom (HRAS [OMIM

#190020])




Workbench, GATK

Costello-Syndrom (HRAS [OMIM

#190020])




Workbench, GATK,

Gendosisbestimmung

Cutis laxa (ALDH18A1 [OMIM

#138250], ATP6V0A2 [OMIM

#611716], ATP6V1A [OMIM #607027],

ATP6V1E1 [OMIM #108746], EFEMP2

[OMIM #604633], ELN [OMIM

#130160], FBLN5 [OMIM #604580],

LTBP4 [OMIM #604710], PYCR1

[OMIM #179035])




Workbench, GATK






(CFTR [OMIM #602421])




Workbench, GATK


(CFTR [OMIM #602421])




Workbench, GATK,

Gendosisbestimmung

Dilatative Kardiomyopathie (DCM)

(ABCC9 [OMIM #601439], ACTC1

[OMIM #102540], ACTN2 [OMIM

#102573], ANKRD1 [OMIM #609599],

BAG3 [OMIM #603883], CALR3

[OMIM #611414], CASQ2 [OMIM

#114251], CAV3 [OMIM #601253],

CRYAB [OMIM #123590], CSRP3

[OMIM #600824], DES [OMIM

#125660], DMD [OMIM #300377],

DSP [OMIM #125647], FKTN [OMIM

#607440], ILK [OMIM #602366], JPH2

[OMIM #605267], LAMA4 [OMIM

#600133], LAMP2 [OMIM #309060],

LDB3 [OMIM #605906], LMNA [OMIM

#150330], MYBPC3 [OMIM #600958],


[OMIM #160760], MYL2 [OMIM

#160781], MYL3 [OMIM #160790],



#608517], NEBL [OMIM #605491],

NEXN [OMIM #613121], PLN [OMIM

#172405], PRDM16 [OMIM #605557],

PRKAG2 [OMIM #602743], RAF1

[OMIM #164760], RBM20 [OMIM

#613171], SCN5A [OMIM #600163],

SGCD [OMIM #601411],




Workbench, GATK

TAZ [OMIM #300394], TCAP [OMIM

#604488], TNNC1 [OMIM #191040],



#191010], TTN [OMIM #188840], VCL

[OMIM #193065])






(ACTN2 [OMIM #102573], BAG3


#125660], LMNA [OMIM #150330],

MYBPC3 [OMIM #600958], MYH7

[OMIM #160760], PLN [OMIM

#172405], RBM20 [OMIM #613171],

TAZ [OMIM #300394], TNNI3 [OMIM

#191044], TNNT2 [OMIM #191045],

TPM1 [OMIM #191010])




Workbench, GATK


(ABCC9 [OMIM #601439], ACTC1


#609599], BAG3 [OMIM #603883],



#601253], CRYAB [OMIM #123590],

CSRP3 [OMIM #600824], DMD [OMIM

#300377], DSP [OMIM #125647],

FKTN [OMIM #607440], ILK [OMIM

#602366], JPH2 [OMIM #605267],

LAMA4 [OMIM #600133], LAMP2

[OMIM #309060], LDB3 [OMIM

#605906], MYH6 [OMIM #160710],

MYL2 [OMIM #160781], MYL3 [OMIM

#160790], MYLK2 [OMIM #606566],

MYOZ2 [OMIM #605602], MYPN

[OMIM #608517], NEBL [OMIM

#605491], NEXN [OMIM #613121],

PRDM16 [OMIM #605557], PRKAG2


#164760], SCN5A [OMIM #600163],

SGCD [OMIM #601411], TCAP [OMIM

#604488], TNNC1 [OMIM #191040],

TTN [OMIM #188840], VCL [OMIM

#193065])




Workbench, GATK






(ACTN2 [OMIM #102573], BAG3


#125660], LMNA [OMIM #150330],


[OMIM #160760], PLN [OMIM

#172405], RBM20 [OMIM #613171],

TAZ [OMIM #300394], TNNI3 [OMIM

#191044], TNNT2 [OMIM #191045],

TPM1 [OMIM #191010])




Workbench, GATK,

Gendosisbestimmung

Dravet-Syndrom (GABRD [OMIM

#137163], GABRG2 [OMIM #137164],

PCDH19 [OMIM #300460], SCN1A


#600235], SCN2A [OMIM #182390],

SCN9A [OMIM #603415])




Workbench, GATK

Dystroglycanopathien Typ A (mit

Gehirn- und Augenanomalien)

(B3GALNT2 [OMIM #610194], B3GNT1

[OMIM #605517], DAG1 [OMIM

#128239], FKRP [OMIM #606596],

FKTN [OMIM #607440], GMPPB

[OMIM #615320], ISPD [OMIM

#614631], LARGE [OMIM #603590],

POMGNT1 [OMIM #606822],

POMGNT2 [OMIM #614828], POMK

[OMIM #615247], POMT1 [OMIM

#607423], POMT2 [OMIM #607439],

TMEM5 [OMIM #605862])




Workbench, GATK

Dystroglycanopathien Typ B

(Kongenital, mit mentaler

Retardierung) und Typ C (DAG1

[OMIM #128239], FKRP [OMIM

#606596], FKTN [OMIM #607440],

GMPPB [OMIM #615320], ISPD

[OMIM #614631], LARGE [OMIM

#603590], POMGNT1 [OMIM

#606822], POMK [OMIM #615247],

POMT1 [OMIM #607423], POMT2

[OMIM #607439])




Workbench, GATK





Ehlers-Danlos-Syndrom (EDS)

(ADAMTS2 [OMIM #604539],

ALDH18A1 [OMIM #138250],

ATP6V0A2 [OMIM #611716],

ATP6V1A [OMIM #607027], ATP6V1E1


#615291], B4GALT7 [OMIM #604327],

C1R [OMIM #613785], C1S [OMIM

#120580], CHST14 [OMIM #608429],



#120160], COL3A1 [OMIM #120180],



#120216], COL6A1 [OMIM #120220],


[OMIM #120250], DSE [OMIM

#605942], EFEMP2 [OMIM #604633],

ELN [OMIM #130160], EMILIN1


#604580], FKBP14 [OMIM #614505],

FLNA [OMIM #300017], LTBP4 [OMIM

#604710],




Workbench, GATK

PHYKPL [OMIM #614683], PLOD1

[OMIM #153454], PLOD3 [OMIM

#603066], PRDM5 [OMIM #614161],

PYCR1 [OMIM #179035], SLC2A10


#608735], TNXB [OMIM #600985],

ZNF469 [OMIM #612078])


Arthrochalasis Typ (aEDS) (COL1A1


#120160])




Workbench, GATK


Arthrochalasis Typ (aEDS) (COL1A1


#120160])




Workbench, GATK,

GendosisbestimmungEhlers-Danlos-Syndrom, autosomal-

dominante Subtypen (COL1A1 [OMIM

#120150], COL1A2 [OMIM #120160],



#120190])




Workbench, GATK





Ehlers-Danlos-Syndrom, autosomal-

dominante Subtypen (COL1A1 [OMIM

#120150], COL1A2 [OMIM #120160],



#120190])




Workbench, GATK,

Gendosisbestimmung

Ehlers-Danlos-Syndrom, autosomal-

rezessive Subtypen (ADAMTS2 [OMIM

#604539], B3GALT6 [OMIM #615291],

B4GALT7 [OMIM #604327], CHST14


#120160], DSE [OMIM #605942],

FKBP14 [OMIM #614505], PLOD1


#608735])




Workbench, GATK


Typ (cEDS) (COL1A1 [OMIM #120150],



#120216])




Workbench, GATK


Typ (cEDS) (COL1A1 [OMIM #120150],



#120216])




Workbench, GATK,

Gendosisbestimmung

Ehlers-Danlos-Syndrom, seltene

Formen, Differenzialdiagnosen (C1R

[OMIM #613785], C1S [OMIM

#120580], COL12A1 [OMIM #120320],



#120250], EMILIN1 [OMIM #130660],

FLNA [OMIM #300017], PHYKPL

[OMIM #614683], PLOD3 [OMIM

#603066], PRDM5 [OMIM #614161],

SLC2A10 [OMIM #606145], ZNF469

[OMIM #612078])




Workbench, GATK

Emery-Dreifuß Muskeldystrophie

(EMD [OMIM #300384], FHL1 [OMIM

#300163], LMNA [OMIM #150330],

SYNE2 [OMIM #608442])




Workbench, GATK





Entwicklungsstörungen (AARS [OMIM

#601065], ACSL4 [OMIM #300157],

ACTB [OMIM #102630], ACTG1

[OMIM #102560], ADAT3 [OMIM

#615302], ADNP [OMIM #611386],

AGTR2 [OMIM #300034], AHDC1

[OMIM #615790], AIFM1 [OMIM

#300169], AKT3 [OMIM #611223],

ALDH5A1 [OMIM #610045], ALG1


#613666], ALG12 [OMIM #607144],


#607905], ALG3 [OMIM #608750],


#608103], ALG9 [OMIM #606941],

AMER1 [OMIM #300647], ANKRD11

[OMIM #611192], AP1S2 [OMIM

#300629], ARHGEF6 [OMIM #300267],

ARHGEF9 [OMIM #300429], ARID1A

[OMIM #603024], ARID1B [OMIM

#614556], ARX [OMIM #300382],

ASPA [OMIM #608034], ASPM [OMIM

#605481], ATP6AP2 [OMIM #300556],

ATP7A [OMIM #300011], ATRX [OMIM

#300032], AUTS2 [OMIM #607270],




Workbench, GATK

B4GALT1 [OMIM #137060], BCOR

[OMIM #300485], BDNF [OMIM

#113505], BRAF [OMIM #164757],

BRWD3 [OMIM #300553], C12orf57

[OMIM #615140], CA8 [OMIM


#114205], CACNG2 [OMIM #602911],

CAD [OMIM #114010], CASC5 [OMIM

#609173], CASK [OMIM #300172], CBL

[OMIM #165360], CC2D1A [OMIM

#610055], CCDC115 [OMIM #613734],






CCDC22 [OMIM #300859], CCND2


#114019], CDK5RAP2 [OMIM

#608201], CDK6 [OMIM #603368],

CDKL5 [OMIM #300203], CDKN1C

[OMIM #600856], CENPE [OMIM

#117143], CENPJ [OMIM #609279],

CEP135 [OMIM #611423], CEP152

[OMIM #613529], CHAMP1 [OMIM

#616327], CHD7 [OMIM #608892],

CHD8 [OMIM #610528], CLCN4

[OMIM #302910], CLIC2 [OMIM


#604569], COG1 [OMIM #606973],


#606821], COG6 [OMIM #606977],


#606979],

COL4A3BP [OMIM #604677], CRADD

[OMIM #603454], CRBN [OMIM

#609262], CREBBP [OMIM #600140],

CTCF [OMIM #604167], CTNNB1

[OMIM #116806], CUL4B [OMIM

#300304], DCX [OMIM #300121],

DDOST [OMIM #602202], DDX3X

[OMIM #300160], DEAF1 [OMIM

#602635], DHCR24 [OMIM #606418],

DHCR7 [OMIM #602858], DIS3L2

[OMIM #614184], DKC1 [OMIM

#300126], DLG3 [OMIM #300189],

DNM1 [OMIM #602377], DNMT3A

[OMIM #602769], DOCK7 [OMIM

#615730], DOCK8 [OMIM #611432],



#603503], DPM2 [OMIM #603564],

DPM3 [OMIM #605951], DPP6 [OMIM

#126141], DVL1 [OMIM #601365],

DVL3 [OMIM #601368], DYNC1H1

[OMIM #600112], DYRK1A [OMIM

#600855],







EED [OMIM #605984], EEF1A2 [OMIM

#602959], EHMT1 [OMIM #607001],

EIF2B5 [OMIM #603945], EP300

[OMIM #602700], EPB41L1 [OMIM

#602879], EZH2 [OMIM #601573],

FGD1 [OMIM #300546], FLNA [OMIM

#300017], FMN2 [OMIM #606373],

FOXG1 [OMIM #164874], FOXP1

[OMIM #605515], FOXP2 [OMIM

#605317], FTSJ1 [OMIM #300499],

GABRA1 [OMIM #137160], GALT

[OMIM #606999], GATAD2B [OMIM

#614998], GCDH [OMIM #608801],

GDI1 [OMIM #300104], GFAP [OMIM

#137780], GIMAP1 [OMIM #608084],

GK [OMIM #300474], GLI3 [OMIM

#165240], GNAO1 [OMIM #139311],

GNAQ [OMIM #600998],

GPC3 [OMIM #300037], GPSM2

[OMIM #609245], GRIA3 [OMIM

#305915], GRIK2 [OMIM #138244],

GRIN1 [OMIM #138249], GRIN2A

[OMIM #138253], GRIN2B [OMIM

#138252], HCCS [OMIM #300056],

HCFC1 [OMIM #300019], HCN1

[OMIM #602780], HDAC4 [OMIM

#605314], HDAC8 [OMIM #300269],

HEPACAM [OMIM #611642], HERC1

[OMIM #605109], HERC2 [OMIM

#605837], HPRT1 [OMIM #308000],

HRAS [OMIM #190020], HUWE1

[OMIM #300697], IDS [OMIM

#300823], IKBKG [OMIM #300248],

IL1RAPL1 [OMIM #300206], IMAP1

[OMIM #608084], IMPA1 [OMIM

#602064], IQSEC2 [OMIM #300522],

ITPA [OMIM #147520], KANSL1

[OMIM #612452], KAT6A [OMIM

#601408], KCNA2 [OMIM #176262],

KCNB1 [OMIM #600397], KCNQ2

[OMIM #602235], KCNT1 [OMIM

#608167],







KDM5C [OMIM #314690], KDM6A


#610657], KIAA2022 [OMIM

#300524], KIF1A [OMIM #601255],

KIF7 [OMIM #611254], KIRREL3

[OMIM #607761], KMT2A [OMIM

#159555], KMT2D [OMIM #602113],

KPTN [OMIM #615620], KRAS [OMIM

#190070], L1CAM [OMIM #308840],

LAMP2 [OMIM #309060], LAS1L

[OMIM #300964], LINS [OMIM

#610350], LZTR1 [OMIM #600574],

MAN1B1 [OMIM #604346], MAOA


#176872], MAP2K2 [OMIM #601263],

MBD5 [OMIM #611472], MBOAT7

[OMIM #606048], MBTPS2 [OMIM

#300294], MCPH1 [OMIM #607117],

MECP2 [OMIM #300005], MED12


#605042], MEF2C [OMIM #600662],

METTL23 [OMIM #615262], MFSD2A

[OMIM #614397], MGAT2 [OMIM

#602616],

MID1 [OMIM #300552], MLC1 [OMIM

#605908], MOGS [OMIM #601336],

MPDU1 [OMIM #604041], MPI [OMIM

#154550], MRAS [OMIM #608435],

MTOR [OMIM #601231], MYT1L

[OMIM #613084], NAA10 [OMIM

#300013], NDP [OMIM #300658],

NDST1 [OMIM #600853], NDUFA1

[OMIM #300078], NFIX [OMIM

#164005], NGLY1 [OMIM #610661],

NHS [OMIM #300457], NIPBL [OMIM

#608667], NLGN3 [OMIM #300336],

NLGN4X [OMIM #300427], NONO


#164790], NRXN1 [OMIM #600565],







NSD1 [OMIM #606681], NSDHL

[OMIM #300275], NSUN2 [OMIM

#610916], NTNG1 [OMIM #608818],

OCRL [OMIM #300535], OFD1 [OMIM

#300170], OPHN1 [OMIM #300127],

OTC [OMIM #300461], PACS1 [OMIM

#607492], PAK3 [OMIM #300142],

PCDH11X [OMIM #300246], PCDH19

[OMIM #300460], PCNT [OMIM

#605925], PDHA1 [OMIM #300502],

PGAP1 [OMIM #611655], PGAP2

[OMIM #615187], PGAP3 [OMIM

#611801], PGK1 [OMIM #311800],

PGM1 [OMIM #171900], PHC1 [OMIM

#602978], PHF6 [OMIM #300414],

PHF8 [OMIM #300560], PIGA [OMIM

#311770], PIGG [OMIM #616918],

PIGL [OMIM #605947], PIGM [OMIM

#610273], PIGN [OMIM #606097],

PIGO [OMIM #614730], PIGT [OMIM

#610272], PIGV [OMIM #610274],

PIGW [OMIM #610275], PIGY [OMIM

#610662], PIK3R2 [OMIM #603157],

PLP1 [OMIM #300401], PMM2

[OMIM #601785], PNKP [OMIM

#605610], POGZ [OMIM #614787],

PORCN [OMIM #300651], PPP1CB

[OMIM #600590], PPP2R1A [OMIM

#605983], PPP2R5D [OMIM #601646],

PQBP1 [OMIM #300463], PRPS1

[OMIM #311850], PRSS12 [OMIM

#606709], PTCH1 [OMIM #601309],

PTCH2 [OMIM #603673], PTCHD1


#601728], PTPN11 [OMIM #176876],

PURA [OMIM #600473], RAB39B

[OMIM #300774], RAD21 [OMIM

#606462], RAF1 [OMIM #164760],

RAI1 [OMIM #607642], RASA2 [OMIM

#601589],







RASA3 [OMIM #605182], RBM10

[OMIM #300080], RFT1 [OMIM

#611908], RIT1 [OMIM #609591],

RNF135 [OMIM #611358], ROR2

[OMIM #602337], RPS6KA3 [OMIM

#300075], RRAS [OMIM #165090],

SASS6 [OMIM #609321], SCN1A


#182390], SCN8A [OMIM #600702],

SCN9A [OMIM #603415], SETBP1

[OMIM #611060], SETD2 [OMIM

#612778], SETD5 [OMIM #615743],

SHANK2 [OMIM #603290], SHANK3

[OMIM #606230], SHOC2 [OMIM

#602775], SIK1 [OMIM #605705],

SLC12A5 [OMIM #606726], SLC13A5


#300095], SLC25A22 [OMIM

#609302], SLC35A1 [OMIM #605634], SLC35A2

[OMIM #314375], SLC35C1 [OMIM

#605881], SLC39A8 [OMIM #608732],

SLC6A17 [OMIM #610299], SLC6A8


#300231], SMARCA2 [OMIM

#600014], SMARCA4 [OMIM

#603254], SMARCB1 [OMIM

#601607], SMARCE1 [OMIM

#603111], SMC1A [OMIM #300040],

SMC3 [OMIM #606062], SMS [OMIM

#300105], SNX14 [OMIM #616105],

SON [OMIM #182465], SOS1 [OMIM

#182530], SOS2 [OMIM #601247],

SOX11 [OMIM #600898], SOX5 [OMIM

#604975], SPTAN1 [OMIM #182810],

SRCAP [OMIM #611421], SRD5A3

[OMIM #611715], SSR4 [OMIM

#300090], ST3GAL3 [OMIM #606494],

STIL [OMIM #181590], STT3A [OMIM

#601134], STT3B [OMIM #608605],

STXBP1 [OMIM #602926], SUFU

[OMIM #607035], SYN1 [OMIM

#313440],







SYNGAP1 [OMIM #603384], SYP

[OMIM #313475], SZT2 [OMIM

#615463], TAF1 [OMIM #313650],

TAF2 [OMIM #604912], TBC1D24 [OMIM #613577], TBC1D7

[OMIM #612655], TCF4 [OMIM

#602272], TECR [OMIM #610057],

THOC2 [OMIM #300395], TIMM8A

[OMIM #300356], TM4SF20 [OMIM

#615404], TMCO1 [OMIM #614123],

TMEM165 [OMIM #614726],

TMEM199 [OMIM #616815], TRAPPC9

[OMIM #611966], TSC1 [OMIM

#605284], TSC2 [OMIM #191092],

TSPAN7 [OMIM #300096], TTI2

[OMIM #614426], TUBA1A [OMIM

#602529], TUBA8 [OMIM #605742],

TUBB [OMIM #191130], TUBB2A

[OMIM #615101], TUBB2B [OMIM

#612850], TUBB3 [OMIM #602661],

TUBG1 [OMIM #191135], TUSC3

[OMIM #601385], UBE2A [OMIM

#312180], UBE3A [OMIM #601623],

UPF3B [OMIM #300298], USP9X

[OMIM #300072], VPS13B [OMIM

#607817], WDR45 [OMIM #300526],

WDR62 [OMIM #613583], WNT5A

[OMIM #164975], WWOX [OMIM

#605131],

ZDHHC15 [OMIM #300576], ZDHHC9

[OMIM #300646], ZEB2 [OMIM

#605802], ZMYND11 [OMIM

#608668], ZNF335 [OMIM #610827],

ZNF711 [OMIM #314990], ZNF81

[OMIM #314998])






Epilepsie (AARS [OMIM #601065],

ADGRV1 [OMIM #602851], ALDH7A1


#300776], AP3B2 [OMIM #602166],

ARHGEF15 [OMIM #608504],

ARHGEF9 [OMIM #300429], ARV1

[OMIM #611647], ARX [OMIM

#300382], ATP1A2 [OMIM #182340],

BRAT1 [OMIM #614506], CACNA1A

[OMIM #601011], CACNA1H [OMIM

#607904], CACNB4 [OMIM #601949],

CAD [OMIM #114010], CASR [OMIM

#601199], CDKL5 [OMIM #300203],

CERS1 [OMIM #606919], CHD2

[OMIM #602119], CHRNA2 [OMIM

#118502], CHRNA4 [OMIM #118504],

CHRNB2 [OMIM #118507], CLCN2


#302910], CPA6 [OMIM #609562],

CSTB [OMIM #601145], DCX [OMIM

#300121], DENND5A [OMIM

#617278], DEPDC5 [OMIM #614191],

DNM1 [OMIM #602377], DOCK7


#600855],




Workbench, GATK

EEF1A2 [OMIM #602959], EFHC1

[OMIM #608815], ELP4 [OMIM

#606985], EPM2A [OMIM #607566],

FASN [OMIM #600212], FGF12 [OMIM

#601513], FOXG1 [OMIM #164874],

FRRS1L [OMIM #604574], GABBR2

[OMIM #607340], GABRA1 [OMIM

#137160], GABRB1 [OMIM #137190],

GABRB3 [OMIM #137192], GABRD

[OMIM #137163],






GABRG2 [OMIM #137164], GAL

[OMIM #137035], GLUL [OMIM

#138290], GNAO1 [OMIM #139311],

GOSR2 [OMIM #604027], GPHN

[OMIM #603930], GRIN2A [OMIM

#138253], GRIN2B [OMIM #138252],

GRIN2D [OMIM #602717], GUF1

[OMIM #617064], HCN1 [OMIM

#602780], HDAC4 [OMIM #605314],

IQSEC2 [OMIM #300522], ITPA [OMIM

#147520], KCNA1 [OMIM #176260],

KCNA2 [OMIM #176262], KCNB1

[OMIM #600397], KCNC1 [OMIM

#176258], KCNH5 [OMIM #605716],

KCNMA1 [OMIM #600150], KCNQ2


#602232], KCNT1 [OMIM #608167],

KCTD7 [OMIM #611725],

LGI1 [OMIM #604619], LMNB2 [OMIM

#150341], MBD5 [OMIM #611472],

MECP2 [OMIM #300005], MEF2C

[OMIM #600662], NECAP1 [OMIM

#611623], NHLRC1 [OMIM #608072],

NIPA2 [OMIM #608146], NPRL2

[OMIM #607072], NPRL3 [OMIM

#600928], PCDH19 [OMIM #300460],

PIGA [OMIM #311770], PIK3AP1

[OMIM #607942], PLCB1 [OMIM

#607120], PNKP [OMIM #605610],

PNPO [OMIM #603287], POLG [OMIM

#174763], PRDM8 [OMIM #616639],

PRICKLE1 [OMIM #608500], PRICKLE2


#614386], RANBP2 [OMIM #601181],

RANGAP1 [OMIM #602362], RELN

[OMIM #600514], ROGDI [OMIM

#614574], RYR3 [OMIM #180903],

SCARB2 [OMIM #602257], SCN1A


#600235], SCN2A [OMIM #182390],

SCN8A [OMIM #600702], SCN9A

[OMIM #603415], SIK1 [OMIM

#605705],







SLC12A5 [OMIM #606726], SLC13A5


#600300], SLC25A12 [OMIM

#603667], SLC25A22 [OMIM

#609302], SLC2A1 [OMIM #138140],


[OMIM #137165], SPTAN1 [OMIM

#182810], SRPX2 [OMIM #300642],

ST3GAL3 [OMIM #606494], STX1B

[OMIM #601485], STXBP1 [OMIM

#602926], SYN1 [OMIM #313440],

SYNGAP1 [OMIM #603384], SZT2

[OMIM #615463], TBC1D24 [OMIM

#613577], TNK2 [OMIM #606994],

UBA5 [OMIM #610552], WWOX

[OMIM #605131])

Epilepsie mit erhöhter

Therapierelevanz (ALDH7A1 [OMIM

#107323], ALG13 [OMIM #300776],

KCNQ2 [OMIM #602235], PNPO


#614386], SCN1A [OMIM #182389],

SLC2A1 [OMIM #138140])




Workbench, GATK

Episodische Ataxien (CACNA1A


#601949], KCNA1 [OMIM #176260],

SCN2A [OMIM #182390], SLC1A3

[OMIM #600111])




Workbench, GATK

Familiäre hemiplegische Migräne

(FHM) (ATP1A2 [OMIM #182340],

CACNA1A [OMIM #601011], SCN1A

[OMIM #182389])




Workbench, GATK

FAP Gene- (APC [OMIM #611731],

BMPR1A [OMIM #601299], MUTYH


#600993], STK11 [OMIM #602216])



Knochenmark, DNA aus FFPE-Gewebe,

DNA aus Blut, Knochenmark und

Tumorgewebe




SeqNext







Harnwege (ACTA2 [OMIM #102620],

ACTG2 [OMIM #102545], BMP4


#112267], CHD1L [OMIM #613039],

CHRM3 [OMIM #118494], DACH1

[OMIM #603803], DSTYK [OMIM

#612666], EYA1 [OMIM #601653],

FRAS1 [OMIM #607830], FREM1

[OMIM #608944], FREM2 [OMIM

#608945], GATA3 [OMIM #131320],

HNF1B [OMIM #189907], HPSE2


#604063], LRIG2 [OMIM #608869],

PAX2 [OMIM #167409], RET [OMIM

#164761], ROBO2 [OMIM #602431],

SALL1 [OMIM #602218], SOX17

[OMIM #610928], TBX18 [OMIM

#604613], TNXB [OMIM #600985],

TRAP1 [OMIM #606219])




Workbench, GATK


Harnwege (ACTA2 [OMIM #102620],

ACTG2 [OMIM #102545], BMP4

[OMIM #112262], CHD1L [OMIM

#613039], CHRM3 [OMIM #118494],

DSTYK [OMIM #612666], GATA3

[OMIM #131320], HNF1B [OMIM

#189907], ITGA8 [OMIM #604063],

PAX2 [OMIM #167409], ROBO2


#610928])




Workbench, GATK


Harnwege (BMP7 [OMIM #112267],

DACH1 [OMIM #603803], EYA1

[OMIM #601653], FRAS1 [OMIM

#607830], FREM1 [OMIM #608944],

FREM2 [OMIM #608945], HPSE2

[OMIM #613469], LRIG2 [OMIM

#608869], RET [OMIM #164761],

SALL1 [OMIM #602218], TRAP1

[OMIM #606219])




Workbench, GATK





Fettstoffwechselerkrankungen

(ABCA1 [OMIM #600046], ANGPTL3

[OMIM #604774], APOA1 [OMIM

#107680], APOA5 [OMIM #606368],

APOB [OMIM #107730], APOC2

[OMIM #608083], APOE [OMIM

#107741], GPIHBP1 [OMIM #612757],

LCAT [OMIM #606967], LDLR [OMIM

#606945], LDLRAP1 [OMIM #605747],

LIPC [OMIM #151670], LPL [OMIM

#609708], MTTP [OMIM #157147],

PCSK9 [OMIM #607786])




Workbench, GATK

Fiebergebundene Anfälle/


Fieberkrämpfen Plus (CPA6 [OMIM

#609562], GABRD [OMIM #137163],

GABRG2 [OMIM #137164], SCN1A


#600235], SCN9A [OMIM #603415],

STX1B [OMIM #601485])




Workbench, GATK



Fieberkrämpfen Plus (CPA6 [OMIM

#609562], GABRD [OMIM #137163],

GABRG2 [OMIM #137164], SCN1A


#600235], SCN9A [OMIM #603415],

STX1B [OMIM #601485])




Workbench, GATK,

Gendosisbestimmung



Fieberkrämpfen Plus (ADGRV1 [OMIM

#602851], CPA6 [OMIM #609562],

GABRD [OMIM #137163], GABRG2


#182389], SCN1B [OMIM #600235],

SCN9A [OMIM #603415], STX1B

[OMIM #601485])




Workbench, GATK





Fokale Epilepsie (CHRNA2 [OMIM

#118502], CHRNA4 [OMIM #118504],

CHRNB2 [OMIM #118507], CPA6

[OMIM #609562], DEPDC5 [OMIM

#614191], ELP4 [OMIM #606985], GAL

[OMIM #137035], GRIN2A [OMIM

#138253], KCNA1 [OMIM #176260],

KCNT1 [OMIM #608167], LGI1 [OMIM

#604619], NPRL2 [OMIM #607072],

NPRL3 [OMIM #600928], RELN [OMIM

#600514])




Workbench, GATK

Fokale Epilepsien (DEPDC5 [OMIM

#614191], ELP4 [OMIM #606985],

GRIN2A [OMIM #138253], KCNA1


#607072], NPRL3 [OMIM #600928])




Workbench, GATK


Enzephalopathie (EIEE) (1) (ARX

[OMIM #300382], CDKL5 [OMIM

#300203], KCNQ2 [OMIM #602235],

PCDH19 [OMIM #300460], SCN1A


#182390], STXBP1 [OMIM #602926])




Workbench, GATK


Enzephalopathie (EIEE) (2) (DNM1


#137160], GABRB3 [OMIM #137192],

GNAO1 [OMIM #139311], KCNA2

[OMIM #176262], KCNT1 [OMIM

#608167], SCN8A [OMIM #600702],

SLC12A5 [OMIM #606726], SLC13A5

[OMIM #608305], UBA5 [OMIM

#610552], WWOX [OMIM #605131])




Workbench, GATK


Enzephalopathie (EIEE) (3) (GRIN2B


#602780], KCNB1 [OMIM #600397],

PIGA [OMIM #311770], PLCB1 [OMIM

#607120], PNKP [OMIM #605610],

SLC35A2 [OMIM #314375], SPTAN1

[OMIM #182810])




Workbench, GATK






Enzephalopathie (EIEE) (AARS [OMIM

#601065], ALG13 [OMIM #300776],

AP3B2 [OMIM #602166], ARHGEF9

[OMIM #300429], ARV1 [OMIM

#611647], ARX [OMIM #300382],

CACNA1A [OMIM #601011], CAD

[OMIM #114010], CDKL5 [OMIM

#300203], CHD2 [OMIM #602119],

DCX [OMIM #300121], DENND5A


#602377], DOCK7 [OMIM #615730],

EEF1A2 [OMIM #602959], FASN


#601513], FOXG1 [OMIM #164874],

FRRS1L [OMIM #604574], GABBR2


#137160], GABRB1 [OMIM #137190],

GABRB3 [OMIM #137192], GNAO1

[OMIM #139311], GPHN [OMIM

#603930], GRIN2B [OMIM #138252],

GRIN2D [OMIM #602717], GUF1


#602780], ITPA [OMIM #147520],

KCNA2 [OMIM #176262], KCNB1


#602235], KCNT1 [OMIM #608167],




Workbench, GATK

MECP2 [OMIM #300005], NECAP1


#300460], PIGA [OMIM #311770],

PLCB1 [OMIM #607120], PNKP [OMIM

#605610], POLG [OMIM #174763],

RANGAP1 [OMIM #602362], RYR3


#182389], SCN2A [OMIM #182390],






SCN8A [OMIM #600702], SIK1 [OMIM

#605705], SLC12A5 [OMIM #606726],



#603667], SLC25A22 [OMIM

#609302], SLC35A2 [OMIM #314375],

SPTAN1 [OMIM #182810], ST3GAL3

[OMIM #606494], STXBP1 [OMIM

#602926], SYNGAP1 [OMIM #603384],

SZT2 [OMIM #615463], TBC1D24

[OMIM #613577], UBA5 [OMIM

#610552], WWOX [OMIM #605131])

Fusion Lung- (ALK [OMIM #105590],

RET [OMIM #164761], ROS1 [OMIM

#165020])

DNA aus FFPE-Gewebe, RNA aus

Tumorgewebe, cDNA


sequencing, Ion PGM-System,

IonReporter (Thermofisher)

Fusion Sarkom- (ATF [OMIM

#606371], CHIC2 [OMIM #604332],

EML4 [OMIM #607442], ETV6 [OMIM

#600618], EWSR1 [OMIM #133450],

FUS [OMIM #137070], NTRK3 [OMIM

#191316], PAX3 [OMIM #606597],

PAX5 [OMIM #167414], PAX7 [OMIM

#167410], SS18 [OMIM #600192])

DNA aus FFPE-Gewebe, RNA aus

Tumorgewebe, cDNA




Fusion AML-ALL- (BCR [OMIM

#151410], CBFB [OMIM #121360],

DEK [OMIM #125264], ETV6 [OMIM

#600618], FUS [OMIM #137070], MLL

[OMIM #159555], NPM1 [OMIM

#164040], PAX5 [OMIM #167414],

PML [OMIM #612376 ], MECOM

[OMIM #165215], RUNX1 [OMIM

#601399], SET [OMIM #600960], SIL


#147141])



Knochenmark, RNA aus Blut und

Knochenmark, cDNA




Gemischte Hyperlipoproteinämie

(APOA1 [OMIM #107680], APOE

[OMIM #107741], LIPC [OMIM

#151670])




Workbench, GATK






Generalisierte myoklonische

Epilepsien (CACNB4 [OMIM #601949],

CASR [OMIM #601199], CERS1 [OMIM

#606919], CLCN2 [OMIM #600570],

CSTB [OMIM #601145], EFHC1 [OMIM

#608815], EPM2A [OMIM #607566],

GABRA1 [OMIM #137160], GABRD

[OMIM #137163], GOSR2 [OMIM

#604027], KCNC1 [OMIM #176258],

KCNMA1 [OMIM #600150], KCTD7

[OMIM #611725], LMNB2 [OMIM

#150341], NHLRC1 [OMIM #608072],

PRDM8 [OMIM #616639], PRICKLE1

[OMIM #608500], PRICKLE2 [OMIM

#608501], SCARB2 [OMIM #602257],

SLC6A1 [OMIM #137165], TBC1D24

[OMIM #613577])




Workbench, GATK

Gitelman-Syndrom (CLCNKB [OMIM

#602023], SLC12A3 [OMIM #600968])




Workbench, GATK

GPI-Ankerdefekte/Hyperphosphatasie-

mentale Retardierungssyndrom

(PGAP1 [OMIM #611655], PGAP2

[OMIM #615187], PGAP3 [OMIM

#611801], PIGA [OMIM #311770],

PIGG [OMIM #616918], PIGL [OMIM

#605947], PIGM [OMIM #610273],

PIGN [OMIM #606097], PIGO [OMIM

#614730], PIGT [OMIM #610272],

PIGV [OMIM #610274], PIGW [OMIM

#610275], PIGY [OMIM #610662])




Workbench, GATK

Großwuchssyndrome (CDKN1C

[OMIM #600856], DIS3L2 [OMIM

#614184], DNMT3A [OMIM #602769],

EED [OMIM #605984], EZH2 [OMIM

#601573], GPC3 [OMIM #300037],

NFIX [OMIM #164005], NSD1 [OMIM

#606681], OFD1 [OMIM #300170])




Workbench, GATK

Hämochromatose Stufe II (BMP6

[OMIM #112266], HAMP [OMIM

#606464], HFE [OMIM #613609],

HFE2 [OMIM #608374], SLC40A1

[OMIM #604653], TFR2 [OMIM

#604720])




Workbench, GATK





Harnstoffzyklus-Defekt (ARG1 [OMIM

#608313], ASL [OMIM #608310], ASS1

[OMIM #603470], CPS1 [OMIM

#608307], NAGS [OMIM #608300],

OTC [OMIM #300461], SLC25A13


#603861])




Workbench, GATK

Hereditäre Neuropathien (AARS


#300169], ARHGEF10 [OMIM

#608136], ATL1 [OMIM #606439],

ATL3 [OMIM #609369], ATP7A [OMIM

#300011], BAG3 [OMIM #603883],

BSCL2 [OMIM #606158], CCT5 [OMIM

#610150], COX6A1 [OMIM #602072],

CTDP1 [OMIM #604927], DCTN1


#602378], DNMT1 [OMIM #126375],

DYNC1H1 [OMIM #600112], EGR2

[OMIM #129010], FAM134B [OMIM

#613114], FGD4 [OMIM #611104],

FIG4 [OMIM #609390], GAN [OMIM

#605379], GARS [OMIM #600287],

GDAP1 [OMIM #606598], GJB1

[OMIM #304040], HARS [OMIM

#142810], HK1 [OMIM #142600],

HOXD10 [OMIM #142984], HSPB1


#604624], HSPB8 [OMIM #608014],

IGHMBP2 [OMIM #600502], IKBKAP

[OMIM #603722], KARS [OMIM

#601421], KIF1A [OMIM #601255],

KIF1B [OMIM #605995], LITAF [OMIM

#603795], LMNA [OMIM #150330],

LRSAM1 [OMIM #610933],




Workbench, GATK






MARS [OMIM #156560], MED25

[OMIM #610197], MFN2 [OMIM

#608507], MME [OMIM #120520],

MORC2 [OMIM #616661], MPZ

[OMIM #159440], MTMR2 [OMIM

#603557], NDRG1 [OMIM #605262],

NEFH [OMIM #162230], NEFL [OMIM

#162280], NGF [OMIM #162030],

NTRK1 [OMIM #191315], PLEKHG5

[OMIM #611101], PMP22 [OMIM

#601097], PRDM12 [OMIM #616458],

PRPS1 [OMIM #311850], PRX [OMIM

#605725], RAB7A [OMIM #602298],

REEP1 [OMIM #609139], SBF1 [OMIM

#603560], SBF2 [OMIM #607697],


[OMIM #603415], SEPT9 [OMIM

#604061], SH3TC2 [OMIM #608206],



#602229], SPG11 [OMIM #610844],

SPTLC1 [OMIM #605712], SPTLC2

[OMIM #605713], SURF1 [OMIM

#185620], TDP1 [OMIM #607198],

TFG [OMIM #602498], TRIM2 [OMIM

#614141], TRPV4 [OMIM #605427],

VCP [OMIM #601023], WNK1 [OMIM

#605232], YARS [OMIM #603623])






Hereditäre Neuropathien (AARS

[OMIM #601065], ARHGEF10 [OMIM

#608136], ATP7A [OMIM #300011],

BAG3 [OMIM #603883], BSCL2 [OMIM

#606158], CCT5 [OMIM #610150],

CTDP1 [OMIM #604927], DCTN1

[OMIM #601143], DYNC1H1 [OMIM

#600112], FAM134B [OMIM

#613114], FGD4 [OMIM #611104],

FIG4 [OMIM #609390], GAN [OMIM

#605379], GJB1 [OMIM #304040],

HOXD10 [OMIM #142984], HSPB3


#608014], IKBKAP [OMIM #603722],

KARS [OMIM #601421], LMNA [OMIM

#150330], LRSAM1 [OMIM #610933],

MED25 [OMIM #610197], MTMR2

[OMIM #603557], NDRG1 [OMIM

#605262], NTRK1 [OMIM #191315],

PLEKHG5 [OMIM #611101], PRPS1

[OMIM #311850], PRX [OMIM

#605725], REEP1 [OMIM #609139],




Workbench, GATK

SBF2 [OMIM #607697], SCN9A [OMIM

#603415], SEPT9 [OMIM #604061],

SH3TC2 [OMIM #608206], SLC12A6


#602229], SPTLC1 [OMIM #605712],

SPTLC2 [OMIM #605713], TDP1

[OMIM #607198], TRPV4 [OMIM

#605427], WNK1 [OMIM #605232],

YARS [OMIM #603623])

Hereditäre periodische

Fiebersyndrome (HPF) (ELANE [OMIM

#130130], IL1RN [OMIM #147679],

IL36RN [OMIM #605507], LPIN2

[OMIM #605519], MEFV [OMIM

#608107], MVK [OMIM #251170],

NLRC4 [OMIM #606831], NLRP12

[OMIM #609648], NLRP3 [OMIM

#606416], NOD2 [OMIM #605956],

PSMB8 [OMIM #177046], PSTPIP1


#612374], TNFRSF1A [OMIM

#191190])




Workbench, GATK





Hereditäre periodische

Fiebersyndrome (HPF) (ELANE [OMIM

#130130], IL1RN [OMIM #147679],

IL36RN [OMIM #605507], LPIN2

[OMIM #605519], MEFV [OMIM

#608107], MVK [OMIM #251170],

NLRC4 [OMIM #606831], NLRP12

[OMIM #609648], NLRP3 [OMIM

#606416], NOD2 [OMIM #605956],

PSMB8 [OMIM #177046], PSTPIP1


#612374], TNFRSF1A [OMIM

#191190])




Workbench, GATK,

Gendosisbestimmung

Hereditäre sensorische (autonome)

Neuropathie 1 und 2 (ATL1 [OMIM

#606439], ATL3 [OMIM #609369],

DNMT1 [OMIM #126375], FAM134B

[OMIM #613114], KIF1A [OMIM

#601255], SPTLC1 [OMIM #605712],

SPTLC2 [OMIM #605713])




Workbench, GATK

Hereditäre Sphärozytose (HS) (ANK1

[OMIM #612641], EPB42 [OMIM

#177070], SLC4A1 [OMIM #109270],

SPTA1 [OMIM #182860], SPTB [OMIM

#182870])




Workbench, GATK

Hereditäre Sphärozytose (HS) (ANK1

[OMIM #612641], EPB42 [OMIM

#177070], SLC4A1 [OMIM #109270],

SPTA1 [OMIM #182860], SPTB [OMIM

#182870])




Workbench, GATK,

Gendosisbestimmung

Herzerkrankungen (A2ML1 [OMIM

#610627], ABCC9 [OMIM #601439],

ACTC1 [OMIM #102540], ACTN2

[OMIM #102573], ACVR2B [OMIM

#602730], ADAMTS10 [OMIM

#608990], AKAP9 [OMIM #604001],

ANK2 [OMIM #106410], ANKRD1

[OMIM #609599], ARHGAP31 [OMIM

#610911], BAG3 [OMIM #603883],

BMPR2 [OMIM #600799], BRAF

[OMIM #164757],




Workbench, GATK






CACNA1C [OMIM #114205],

CACNA2D1 [OMIM #114204], CACNB2


#114180], CALM2 [OMIM #114182],



#601253], CBL [OMIM #165360],

CFAP53 [OMIM #614759], CFC1


#608892], CITED2 [OMIM #602937],

CREBBP [OMIM #600140], CRELD1

[OMIM #607170], CRYAB [OMIM

#123590], CSRP3 [OMIM #600824],

DES [OMIM #125660], DMD [OMIM

#300377], DNAH11 [OMIM #603339],

DNAH5 [OMIM #603335], DNAI1

[OMIM #604366],

DOCK6 [OMIM #614194], DSC2

[OMIM #125645], DSG2 [OMIM

#125671], DSP [OMIM #125647],

DTNA [OMIM #601239], EHMT1


#130160], EOGT [OMIM #614789],

EP300 [OMIM #602700], EVC [OMIM

#604831], EVC2 [OMIM #607261],

FBN1 [OMIM #134797], FBN2 [OMIM

#612570], FKTN [OMIM #607440],

FLNA [OMIM #300017], FOXC1 [OMIM

#601090], FOXH1 [OMIM #603621],

FOXP1 [OMIM #605515], GATA4


#611496], GATA6 [OMIM #601656],

GDF1 [OMIM #602880], Gx1 [OMIM

#121014], GPC3 [OMIM #300037],


[OMIM #605206], HRAS [OMIM

#190020], ILK [OMIM #602366], xG1

[OMIM #601920], JPH2 [OMIM

#605267], JUP [OMIM #173325],

KCND3 [OMIM #605411], KCNE1


#603796], KCNE3 [OMIM #604433],


[OMIM #152427],









#600935], KCNQ1 [OMIM #607542],

KDM6A [OMIM #300128], KMT2D


#190070], LAMA4 [OMIM #600133],

LAMP2 [OMIM #309060], LDB3

[OMIM #605906], LEFTY2 [OMIM

#601877], LMNA [OMIM #150330],

LRP1 [OMIM #107770], LZTR1 [OMIM

#600574], MAP2K1 [OMIM #176872],

MAP2K2 [OMIM #601263], MED12

[OMIM #300188], MED13L [OMIM

#608771], MGP [OMIM #154870],

MMP21 [OMIM #608416], MYBPC3

[OMIM #600958], MYH11 [OMIM

#160745], MYH6 [OMIM #160710],

MYH7 [OMIM #160760], MYL2 [OMIM

#160781], MYL3 [OMIM #160790],



#608517], NEBL [OMIM #605491],

NEXN [OMIM #613121], NF1 [OMIM

#613113], NIPBL [OMIM #608667],

NKX2-5 [OMIM #600584], NKX2-6

[OMIM #611770], NODAL [OMIM

#601265], NOTCH1 [OMIM #190198],

NOTCH2 [OMIM #600275],

NPHP4 [OMIM #607215], NR2F2


#164790], NSD1 [OMIM #606681],

PITX2 [OMIM #601542], PKD1L1

[OMIM #609721], PKP2 [OMIM

#602861], PLN [OMIM #172405],

PPP1CB [OMIM #600590], PRDM16

[OMIM #605557], PRKAG2 [OMIM

#602743], PTPN11 [OMIM #176876],







RAF1 [OMIM #164760], RANGRF


#601589], RASA3 [OMIM #605182],

RBM10 [OMIM #300080], RBM20

[OMIM #613171], RBPJ [OMIM

#147183], RIT1 [OMIM #609591],

RRAS [OMIM #165090], RYR2 [OMIM

#180902], SALL1 [OMIM #602218],

SALL4 [OMIM #607343], SCN10A


#600235], SCN2B [OMIM #601327],

SCN3B [OMIM #608214], SCN4B


#600163], SEMA3E [OMIM #608166],

SGCD [OMIM #601411], SHOC2

[OMIM #602775], SLMAP [OMIM

#602701], SMAD6 [OMIM #602931],

SNTA1 [OMIM #601017], SOS1 [OMIM

#182530],

SOS2 [OMIM #601247], SPRED1

[OMIM #609291], SPRY1 [OMIM

#602465], TAB2 [OMIM #605101], TAZ


#602054], TBX20 [OMIM #606061],


#601620], TCAP [OMIM #604488],

TECRL [OMIM #617242], TFAP2B


#190230], TGFBR1 [OMIM #190181],

TGFBR2 [OMIM #190182], TLL1


#612048], TNNC1 [OMIM #191040],



#191010], TRDN [OMIM #603283],

TRPM4 [OMIM #606936], TTN [OMIM

#188840], VCL [OMIM #193065], ZEB2

[OMIM #605802], ZFPM2 [OMIM

#603693], ZIC3 [OMIM #300265])






Heterotaxie (ACVR2B [OMIM

#602730], CFAP53 [OMIM #614759],

CRELD1 [OMIM #607170], DNAH11


#603335], DNAI1 [OMIM #604366],

GDF1 [OMIM #602880], LEFTY2

[OMIM #601877], MMP21 [OMIM

#608416], NODAL [OMIM #601265],

NPHP4 [OMIM #607215], PKD1L1


#300265])




Workbench, GATK

Heterotaxie (ACVR2B [OMIM

#602730], CFAP53 [OMIM #614759],

CRELD1 [OMIM #607170], DNAI1

[OMIM #604366], GDF1 [OMIM

#602880], LEFTY2 [OMIM #601877],

MMP21 [OMIM #608416], NODAL

[OMIM #601265], PKD1L1 [OMIM

#609721], ZIC3 [OMIM #300265])




Workbench, GATK

Heterotaxie (DNAH11 [OMIM

#603339], DNAH5 [OMIM #603335],

NPHP4 [OMIM #607215])




Workbench, GATK

Hyperekplexie (GLRA1 [OMIM

#138491], GLRB [OMIM #138492],

SLC6A5 [OMIM #604159])




Workbench, GATK

Hyperoxalurie (AGXT [OMIM

#604285], GRHPR [OMIM #604296],

HOGA1 [OMIM #613597])




Workbench, GATK





Hypertrophe Kardiomyopathie (HCM)

(ACTC1 [OMIM #102540], ACTN2


#609599], CALR3 [OMIM #611414],

CASQ2 [OMIM #114251], CAV3


#123590], CSRP3 [OMIM #600824],

DES [OMIM #125660], JPH2 [OMIM

#605267], LDB3 [OMIM #605906],



#160760], MYL2 [OMIM #160781],

MYL3 [OMIM #160790], MYLK2

[OMIM #606566], MYOZ2 [OMIM

#605602], MYPN [OMIM #608517],

NEXN [OMIM #613121], PLN [OMIM

#172405], PRKAG2 [OMIM #602743],

TCAP [OMIM #604488], TNNC1

[OMIM #191040], TNNI3 [OMIM

#191044], TNNT2 [OMIM #191045],

TPM1 [OMIM #191010], VCL [OMIM

#193065])




Workbench, GATK




#609599], CSRP3 [OMIM #600824],

JPH2 [OMIM #605267], MYBPC3


#160760], MYL2 [OMIM #160781],

MYL3 [OMIM #160790], PLN [OMIM

#172405], PRKAG2 [OMIM #602743],



#191044], TNNT2 [OMIM #191045],

TPM1 [OMIM #191010])




Workbench, GATK








#609599], CSRP3 [OMIM #600824],

JPH2 [OMIM #605267], MYBPC3


#160760], MYL2 [OMIM #160781],

MYL3 [OMIM #160790], PLN [OMIM

#172405], PRKAG2 [OMIM #602743],



#191044], TNNT2 [OMIM #191045],

TPM1 [OMIM #191010])




Workbench, GATK,

Gendosisbestimmung


(CALR3 [OMIM #611414], CASQ2


#601253], CRYAB [OMIM #123590],

DES [OMIM #125660], LDB3 [OMIM

#605906], MYH6 [OMIM #160710],



#608517], NEXN [OMIM #613121],

VCL [OMIM #193065])




Workbench, GATK

Hypoalphalipoproteinämie (ABCA1


#107680], LCAT [OMIM #606967])




Workbench, GATK

Hypobetalipoproteinämie (ANGPTL3

[OMIM #604774], APOB [OMIM

#107730], MTTP [OMIM #157147],

PCSK9 [OMIM #607786])




Workbench, GATK

Hypokaliämische Periodische Paralyse

(CACNA1S [OMIM #114208], KCNJ18


#600681], SCN4A [OMIM #603967])




Workbench, GATK

Hypolipoproteinämie (ABCA1 [OMIM

#600046], ANGPTL3 [OMIM #604774],

APOA1 [OMIM #107680], APOB

[OMIM #107730], LCAT [OMIM

#606967], MTTP [OMIM #157147],

PCSK9 [OMIM #607786])




Workbench, GATK





Immundefekte im Kindesalter,

primäre (ADA [OMIM #608958], AK2

[OMIM #103020], AP3B1 [OMIM

#603401], BLNK [OMIM #604515],

BTK [OMIM #300300], CD247 [OMIM

#186780], CD3D [OMIM #186790],

CD3E [OMIM #186830], CD3G [OMIM

#186740], CD40 [OMIM #109535],

CD40LG [OMIM #300386], CD79A

[OMIM #112205], CD79B [OMIM

#147245], CD8A [OMIM #186910],

CIITA [OMIM #600005], CLPB [OMIM

#616254], CORO1A [OMIM #605000],

CSF3R [OMIM #138971], CXCR4

[OMIM #162643], DCLRE1C [OMIM

#605988], DOCK8 [OMIM #611432],

ELANE [OMIM #130130], FOXN1

[OMIM #600838], G6PC3 [OMIM

#611045], GATA1 [OMIM #305371],

GATA2 [OMIM #137295], GFI1 [OMIM

#600871], HAX1 [OMIM #605998],

IGHM [OMIM #147020], IGLL1 [OMIM

#146770], IKZF1 [OMIM #603023],

IL2RG [OMIM #308380], IL7R [OMIM

#146661], ITK [OMIM #186973], xGN1

[OMIM #616012], xK3 [OMIM

#600173],




Workbench, GATK

LAMTOR2 [OMIM #610389], LCK

[OMIM #153390], LIG4 [OMIM

#601837], LRRC8A [OMIM #608360],

LYST [OMIM #606897], MAGT1

[OMIM #300715], NHEJ1 [OMIM

#611290], ORAI1 [OMIM #610277],

PIK3R1 [OMIM #171833], PNP [OMIM

#164050], PRKDC [OMIM #600899],

PTPRC [OMIM #151460], RAB27A

[OMIM #603868], RAG1 [OMIM

#179615], RAG2 [OMIM #179616],

RFX5 [OMIM #601863], RFXANK

[OMIM #603200], RFXAP [OMIM

#601861], RHOH [OMIM #602037],






RMRP [OMIM #157660], SBDS [OMIM

#607444], SLC37A4 [OMIM #602671],

STAT5B [OMIM #604260], STIM1


#604965], TAP1 [OMIM #170260],

TAP2 [OMIM #170261], TAPBP [OMIM

#601962], TAZ [OMIM #300394],

TRAC [OMIM #186880], UNC119

[OMIM #604011], USB1 [OMIM

#613276], VPS13B [OMIM #607817],

VPS45 [OMIM #610035], WAS [OMIM

#300392], ZAP70 [OMIM #176947])

Interstitielle Lungenerkrankungen im

Kindesalter (ILD) / diffuse

parenchymatöse

Lungenerkrankungen (DPLD) (ABCA3

[OMIM #601615], CSF2RA [OMIM

#306250], CSF2RB [OMIM #138981],

FLNA [OMIM #300017], FOXF1 [OMIM

#601089], NKX2-1 [OMIM #600635],

SFTPB [OMIM #178640], SFTPC

[OMIM #178620])




Workbench, GATK

Isolierte Herzfehler (ACTC1 [OMIM

#102540], BMPR2 [OMIM #600799],

CITED2 [OMIM #602937], DTNA


#130160], FOXH1 [OMIM #603621],

FOXP1 [OMIM #605515], GATA4


#611496], GATA6 [OMIM #601656],

Gx1 [OMIM #121014], MED13L


#160710], NKX2-5 [OMIM #600584],

NKX2-6 [OMIM #611770], NR2F2


#602931], TAB2 [OMIM #605101],


#606061], TLL1 [OMIM #606742],

ZFPM2 [OMIM #603693])




Workbench, GATK






Isolierte Herzfehler (ACTC1 [OMIM

#102540], CITED2 [OMIM #602937],

ELN [OMIM #130160], FOXH1 [OMIM

#603621], GATA4 [OMIM #600576],

GATA5 [OMIM #611496], GATA6


#160710], NKX2-5 [OMIM #600584],


#606061])




Workbench, GATK

Isolierte Herzfehler (BMPR2 [OMIM

#600799], DTNA [OMIM #601239],

FOXP1 [OMIM #605515], Gx1 [OMIM

#121014], MED13L [OMIM #608771],

NKX2-6 [OMIM #611770], NR2F2


#602931], TAB2 [OMIM #605101],

TLL1 [OMIM #606742], ZFPM2 [OMIM

#603693])




Workbench, GATK

Jeune-/ Kurzrippen-Polydaktylie-

Syndrom (CEP120 [OMIM #613446],

CSPP1 [OMIM #611654], DYNC2H1

[OMIM #603297], DYNC2LI1 [OMIM

#617083], EVC [OMIM #604831],

EVC2 [OMIM #607261], IFT122

[OMIM #606045], IFT140 [OMIM

#614620], IFT172 [OMIM #607386],


#617094], IFT80 [OMIM #611177],

KIAA0586 [OMIM #610178], NEK1


#613847], TTC21B [OMIM #612014],

WDR19 [OMIM #608151], WDR34


#613602], WDR60 [OMIM #615462])




Workbench, GATK


Syndrom (DYNC2H1 [OMIM #603297],

IFT80 [OMIM #611177], NEK1 [OMIM

#604588], TTC21B [OMIM #612014],

WDR34 [OMIM #613363])




Workbench, GATK






Syndrom (CEP120 [OMIM #613446],

CSPP1 [OMIM #611654], DYNC2LI1

[OMIM #617083], EVC [OMIM

#604831], EVC2 [OMIM #607261],

IFT122 [OMIM #606045], IFT140

[OMIM #614620], IFT172 [OMIM

#607386], IFT43 [OMIM #614068],

IFT52 [OMIM #617094], KIAA0586


#613847], WDR19 [OMIM #608151],

WDR35 [OMIM #613602], WDR60

[OMIM #615462])




Workbench, GATK

Joubert Syndrom (Ziliopathie) (AHI1


#608922], ATXN10 [OMIM #611150],

B9D1 [OMIM #614144], C5orf42


#612013], CEP104 [OMIM #616690],

CEP290 [OMIM #610142], CEP41

[OMIM #610523], CSPP1 [OMIM

#611654], EXOC8 [OMIM #615283],

HYLS1 [OMIM #610693], INPP5E


#616650], KIAA0586 [OMIM

#610178], KIF7 [OMIM #611254],

MKS1 [OMIM #609883], NPHP1

[OMIM #607100], OFD1 [OMIM

#300170], PDE6D [OMIM #602676],

POC1B [OMIM #614784], RPGRIP1L


#609863], TCTN2 [OMIM #613846],

TCTN3 [OMIM #613847], TMEM138


#613277], TMEM231 [OMIM

#614949], TMEM237 [OMIM

#614423], TMEM67 [OMIM #609884],

TTC21B [OMIM #612014], ZNF423

[OMIM #604557])




Workbench, GATK

Joubert Syndrom (Ziliopathie) (AHI1


#612013], CEP290 [OMIM #610142],

NPHP1 [OMIM #607100], RPGRIP1L


#613277], TMEM67 [OMIM #609884])




Workbench, GATK





Joubert Syndrom (Ziliopathie)

(ARL13B [OMIM #608922], ATXN10

[OMIM #611150], B9D1 [OMIM

#614144], C5orf42 [OMIM #614571],

CEP104 [OMIM #616690], CEP41

[OMIM #610523], CSPP1 [OMIM

#611654], HYLS1 [OMIM #610693],

INPP5E [OMIM #613037], KIAA0556


#610178], KIF7 [OMIM #611254],

MKS1 [OMIM #609883], OFD1 [OMIM

#300170], PDE6D [OMIM #602676],

POC1B [OMIM #614784], TCTN1


#613846], TCTN3 [OMIM #613847],

TMEM138 [OMIM #614459],

TMEM231 [OMIM #614949],

TMEM237 [OMIM #614423], TTC21B

[OMIM #612014], ZNF423 [OMIM

#604557])




Workbench, GATK

Juvenile myoklonische Epilepsien

(CACNB4 [OMIM #601949], CASR


#600570], EFHC1 [OMIM #608815],

GABRA1 [OMIM #137160], GABRD

[OMIM #137163], KCNMA1 [OMIM

#600150], SLC6A1 [OMIM #137165],

TBC1D24 [OMIM #613577])




Workbench, GATK

Kabuki-Syndrom (KDM6A [OMIM

#300128], KMT2D [OMIM #602113])




Workbench, GATK





Kallmann-Syndrom (ANOS1 [OMIM

#300836], CHD7 [OMIM #608892],

DUSP6 [OMIM #602748], FEZF1


#603725], FGF8 [OMIM #600483],

FGFR1 [OMIM #136350], FLRT3

[OMIM #604808], FSHB [OMIM

#136530], GNRH1 [OMIM #152760],

GNRHR [OMIM #138850], HS6ST1

[OMIM #604846], IL17RD [OMIM

#606807], KISS1 [OMIM #603286],

KISS1R [OMIM #604161], LHB [OMIM

#152780], NSMF [OMIM #608137],

PROK2 [OMIM #607002], PROKR2

[OMIM #607123], SEMA3A [OMIM

#603961], SOX10 [OMIM #602229],

SPRY4 [OMIM #607984], TAC3 [OMIM

#162330], TACR3 [OMIM #162332],

WDR11 [OMIM #606417])




Workbench, GATK

Kallmann-Syndrom Stufe I (ANOS1


#608892], FGF8 [OMIM #600483],

FGFR1 [OMIM #136350], PROK2

[OMIM #607002], PROKR2 [OMIM

#607123])




Workbench, GATK

Kallmann-Syndrom Stufe II (FSHB

[OMIM #136530], GNRH1 [OMIM

#152760], GNRHR [OMIM #138850],

KISS1 [OMIM #603286], KISS1R

[OMIM #604161], LHB [OMIM

#152780], SEMA3A [OMIM #603961],

SOX10 [OMIM #602229], TAC3 [OMIM

#162330], TACR3 [OMIM #162332])




Workbench, GATK

Kallmann-Syndrom (DUSP6 [OMIM

#602748], FEZF1 [OMIM #613301],

FGF17 [OMIM #603725], FLRT3

[OMIM #604808], HS6ST1 [OMIM

#604846], IL17RD [OMIM #606807],

NSMF [OMIM #608137], SPRY4


#606417])




Workbench, GATK

Kollagen 4-assoziierte intrazerebrale

Blutungen (COL4A1 [OMIM #120130],

COL4A2 [OMIM #120090])




Workbench, GATK





Kombinierte T- und B-

Zellimmundefekte (ADA [OMIM

#608958], AK2 [OMIM #103020],

CD247 [OMIM #186780], CD3D

[OMIM #186790], CD3E [OMIM

#186830], CD3G [OMIM #186740],

CD40 [OMIM #109535], CD40LG

[OMIM #300386], CD8A [OMIM

#186910], CIITA [OMIM #600005],

CORO1A [OMIM #605000], DCLRE1C

[OMIM #605988], DOCK8 [OMIM

#611432], FOXN1 [OMIM #600838],

IKZF1 [OMIM #603023], IL2RG [OMIM

#308380], IL7R [OMIM #146661], ITK

[OMIM #186973], xK3 [OMIM

#600173], LCK [OMIM #153390], LIG4

[OMIM #601837], MAGT1 [OMIM

#300715], NHEJ1 [OMIM #611290],

ORAI1 [OMIM #610277], PNP [OMIM

#164050], PRKDC [OMIM #600899],

PTPRC [OMIM #151460], RAG1


#179616], RFX5 [OMIM #601863],

RFXANK [OMIM #603200], RFXAP

[OMIM #601861], RHOH [OMIM

#602037], RMRP [OMIM #157660],



#604965],




Workbench, GATK

TAP1 [OMIM #170260], TAP2 [OMIM

#170261], TAPBP [OMIM #601962],

TRAC [OMIM #186880], UNC119

[OMIM #604011], ZAP70 [OMIM

#176947])






Zellimmundefekte (ADA [OMIM

#608958], CD247 [OMIM #186780],

CD3D [OMIM #186790], CD3E [OMIM

#186830], CD3G [OMIM #186740],

CD40 [OMIM #109535], CD40LG

[OMIM #300386], CD8A [OMIM

#186910], CORO1A [OMIM #605000],

DCLRE1C [OMIM #605988], IL2RG

[OMIM #308380], IL7R [OMIM

#146661], xK3 [OMIM #600173], LIG4

[OMIM #601837], PNP [OMIM

#164050], RAG1 [OMIM #179615],

RAG2 [OMIM #179616], ZAP70

[OMIM #176947])




Workbench, GATK


Zellimmundefekte (AK2 [OMIM

#103020], CIITA [OMIM #600005],

DOCK8 [OMIM #611432], FOXN1

[OMIM #600838], IKZF1 [OMIM

#603023], ITK [OMIM #186973], LCK

[OMIM #153390], MAGT1 [OMIM

#300715], NHEJ1 [OMIM #611290],

ORAI1 [OMIM #610277], PRKDC

[OMIM #600899], PTPRC [OMIM

#151460], RFX5 [OMIM #601863],

RFXANK [OMIM #603200], RFXAP

[OMIM #601861], RHOH [OMIM

#602037], RMRP [OMIM #157660],



#604965], TAP1 [OMIM #170260],

TAP2 [OMIM #170261], TAPBP [OMIM

#601962], TRAC [OMIM #186880],

UNC119 [OMIM #604011])




Workbench, GATK





Kongenitale Muskeldystrophien

(CHKB [OMIM #612395], COL6A1


#120240], COL6A3 [OMIM #120250],

DNM2 [OMIM #602378], FHL1 [OMIM

#300163], FKRP [OMIM #606596],

FKTN [OMIM #607440], ISPD [OMIM

#614631], ITGA7 [OMIM #600536],

LAMA2 [OMIM #156225], LARGE

[OMIM #603590], POMGNT1 [OMIM


#614828], POMT1 [OMIM #607423],

POMT2 [OMIM #607439], SEPN1

[OMIM #606210], TCAP [OMIM

#604488])




Workbench, GATK

Kongenitale Myopathien (ACTA1

[OMIM #102610], BIN1 [OMIM

#601248], CCDC78 [OMIM #614666],

CFL2 [OMIM #601443], CNTN1 [OMIM

#600016], DNM2 [OMIM #602378],

KBTBD13 [OMIM #613727], KLHL40

[OMIM #615340], KLHL41 [OMIM

#607701], LMOD3 [OMIM #616112],

MEGF10 [OMIM #612453], MTM1


#611089], MYF6 [OMIM #159991],


[OMIM #160760], NEB [OMIM

#161650], RYR1 [OMIM #180901],

SEPN1 [OMIM #606210], SPEG [OMIM

#615950], TNNT1 [OMIM #191041],


#191030], TTN [OMIM #188840], VCP

[OMIM #601023])




Workbench, GATK

Kongenitale Myopathien (ACTA1


#160760], RYR1 [OMIM #180901],

TPM3 [OMIM #191030])




Workbench, GATK





Kongenitale Myopathien (erweiterte

Panel-Analyse) (BIN1 [OMIM

#601248], CCDC78 [OMIM #614666],

CFL2 [OMIM #601443], CNTN1 [OMIM

#600016], DNM2 [OMIM #602378],

KBTBD13 [OMIM #613727], KLHL40

[OMIM #615340], KLHL41 [OMIM

#607701], LMOD3 [OMIM #616112],

MTM1 [OMIM #300415], MTMR14

[OMIM #611089], MYF6 [OMIM

#159991], NEB [OMIM #161650],

SEPN1 [OMIM #606210], SPEG [OMIM

#615950], TNNT1 [OMIM #191041],

TPM2 [OMIM #190990], TTN [OMIM

#188840])




Workbench, GATK

Kraniosynostosen (ALX4 [OMIM

#605420], BMP4 [OMIM #112262],

CCBE1 [OMIM #612753], CEP120


#300035], ERF [OMIM #611888],

ESCO2 [OMIM #609353], FGFR1


#176943], FGFR3 [OMIM #134934],

FREM1 [OMIM #608944], GLI3 [OMIM

#165240], IFT122 [OMIM #606045],

IFT140 [OMIM #614620], IFT43

[OMIM #614068], IL11RA [OMIM

#600939], IMPAD1 [OMIM #614010],

IRX5 [OMIM #606195], KRAS [OMIM

#190070], MEGF8 [OMIM #604267],


[OMIM #160720], P4HB [OMIM

#176790], POR [OMIM #124015],



#613619], SEC24D [OMIM #607186],

SKI [OMIM #164780], SPECC1L [OMIM

#614140], STAT3 [OMIM #102582],

TCF12 [OMIM #600480], TGFBR1


#190182], TWIST1 [OMIM #601622],

WDR19 [OMIM #608151], WDR35

[OMIM #613602])




Workbench, GATK





Kraniosynostosen (FGFR1 [OMIM

#136350], FGFR2 [OMIM #176943],

FGFR3 [OMIM #134934], TCF12

[OMIM #600480], TWIST1 [OMIM

#601622])




Workbench, GATK

Kraniosynostosen (ALX4 [OMIM

#605420], BMP4 [OMIM #112262],

CCBE1 [OMIM #612753], CEP120


#300035], ERF [OMIM #611888],

ESCO2 [OMIM #609353], FREM1

[OMIM #608944], GLI3 [OMIM

#165240], IFT122 [OMIM #606045],

IFT140 [OMIM #614620], IFT43

[OMIM #614068], IL11RA [OMIM

#600939], IMPAD1 [OMIM #614010],

IRX5 [OMIM #606195], KRAS [OMIM

#190070], MEGF8 [OMIM #604267],


[OMIM #160720], P4HB [OMIM

#176790], POR [OMIM #124015],



#613619], SEC24D [OMIM #607186],

SKI [OMIM #164780], SPECC1L [OMIM

#614140], STAT3 [OMIM #102582],

TCF12 [OMIM #600480], TGFBR1


#190182], WDR19 [OMIM #608151],

WDR35 [OMIM #613602])




Workbench, GATK


#164757], MAP2K1 [OMIM #176872],


[OMIM #164760])




Workbench, GATK


#164757], MAP2K1 [OMIM #176872],


[OMIM #164760])




Workbench, GATK,

Gendosisbestimmung

Leukoencephalopathie mit Verlust der

weißen Substanz (EIF2B1 [OMIM

#606686], EIF2B2 [OMIM #606454],



#603945])




Workbench, GATK





Loeys-Dietz-Syndrom (SMAD3 [OMIM

#603109], TGFB2 [OMIM #190220],

TGFB3 [OMIM #190230], TGFBR1


#190182])




Workbench, GATK

Loeys-Dietz-Syndrom (SMAD3 [OMIM

#603109], TGFB2 [OMIM #190220],

TGFB3 [OMIM #190230], TGFBR1


#190182])




Workbench, GATK,

Gendosisbestimmung

Long QT-Syndrom (LQTS) (AKAP9

[OMIM #604001], ANK2 [OMIM


#114205], CALM1 [OMIM #114180],

CALM2 [OMIM #114182], CAV3


#176261], KCNE2 [OMIM #603796],



#600681], KCNJ5 [OMIM #600734],

KCNQ1 [OMIM #607542], SCN4B


#600163], SNTA1 [OMIM #601017],

TECRL [OMIM #617242])




Workbench, GATK

Long QT-Syndrom (LQTS) (CACNA1C


#114180], CAV3 [OMIM #601253],

KCNE1 [OMIM #176261], KCNE2


#604433], KCNH2 [OMIM #152427],



#607542], SCN4B [OMIM #608256],

SCN5A [OMIM #600163], SNTA1

[OMIM #601017])




Workbench, GATK





Long QT-Syndrom (LQTS) (AKAP9

[OMIM #604001], ANK2 [OMIM


#114205], CALM1 [OMIM #114180],

CALM2 [OMIM #114182], CAV3


#176261], KCNE2 [OMIM #603796],



#600681], KCNJ5 [OMIM #600734],

KCNQ1 [OMIM #607542], SCN4B


#600163], SNTA1 [OMIM #601017],

TECRL [OMIM #617242])




Workbench, GATK

Long QT-Syndrom (LQTS) (CACNA1C


#114180], CAV3 [OMIM #601253],

KCNE1 [OMIM #176261], KCNE2


#604433], KCNH2 [OMIM #152427],



#607542], SCN4B [OMIM #608256],

SCN5A [OMIM #600163], SNTA1

[OMIM #601017])




Workbench, GATK,

Gendosisbestimmung





Makrozephalien (AKT3 [OMIM

#611223], AMER1 [OMIM #300647],

ASPA [OMIM #608034], BRAF [OMIM

#164757], BRWD3 [OMIM #300553],

CBL [OMIM #165360], CCDC22 [OMIM

#300859], CCND2 [OMIM #123833],

CDKN1C [OMIM #600856], CHD8


#300304], DIS3L2 [OMIM #614184],

DNMT3A [OMIM #602769], DVL1

[OMIM #601365], DVL3 [OMIM

#601368], EZH2 [OMIM #601573],

FOXP1 [OMIM #605515], GCDH

[OMIM #608801], GFAP [OMIM

#137780], GLI3 [OMIM #165240],

GNAQ [OMIM #600998], GPC3 [OMIM

#300037], GRIA3 [OMIM #305915],

HEPACAM [OMIM #611642], HERC1


#190020], HUWE1 [OMIM #300697],

KIAA0196 [OMIM #610657], KIF7

[OMIM #611254], KPTN [OMIM

#615620], KRAS [OMIM #190070],



#601263], MED12 [OMIM #300188],

MLC1 [OMIM #605908], MTOR

[OMIM #601231], NDUFA1 [OMIM

#300078], NFIX [OMIM #164005],

NONO [OMIM #300084],




Workbench, GATK

NRAS [OMIM #164790], NSD1 [OMIM

#606681], OFD1 [OMIM #300170],

PIGA [OMIM #311770], PIGN [OMIM

#606097], PIGT [OMIM #610272],

PIGV [OMIM #610274], PIK3R2

[OMIM #603157], PPP1CB [OMIM

#600590], PPP2R5D [OMIM #601646],

PTCH1 [OMIM #601309], PTCH2


#601728], PTPN11 [OMIM #176876],

RAB39B [OMIM #300774], RAF1


#601589],Fortsetzung der Zeile auf der nächsten Seite





RASA3 [OMIM #605182], RIT1 [OMIM

#609591], RNF135 [OMIM #611358],

ROR2 [OMIM #602337], RRAS [OMIM

#165090], SETD2 [OMIM #612778],

SHANK3 [OMIM #606230], SHOC2


#182530], SOS2 [OMIM #601247],

SUFU [OMIM #607035], TBC1D7

[OMIM #612655], TMCO1 [OMIM

#614123], UPF3B [OMIM #300298],

WNT5A [OMIM #164975], ZDHHC9

[OMIM #300646])

Makrozephalien (EZH2 [OMIM

#601573], GCDH [OMIM #608801],

NFIX [OMIM #164005], NSD1 [OMIM

#606681], PTCH1 [OMIM #601309],

PTEN [OMIM #601728], SHANK3

[OMIM #606230])




Workbench, GATK

Makrozephalien (AKT3 [OMIM

#611223], AMER1 [OMIM #300647],

ASPA [OMIM #608034], BRAF [OMIM

#164757], BRWD3 [OMIM #300553],

CBL [OMIM #165360], CCDC22 [OMIM

#300859], CCND2 [OMIM #123833],

CDKN1C [OMIM #600856], CHD8


#300304], DIS3L2 [OMIM #614184],

DNMT3A [OMIM #602769], DVL1

[OMIM #601365], DVL3 [OMIM

#601368], FOXP1 [OMIM #605515],

GFAP [OMIM #137780], GLI3 [OMIM

#165240], GNAQ [OMIM #600998],

GPC3 [OMIM #300037], GRIA3 [OMIM

#305915], HEPACAM [OMIM

#611642], HRAS [OMIM #190020],

HUWE1 [OMIM #300697], KIAA0196

[OMIM #610657],




Workbench, GATK







KIF7 [OMIM #611254], KPTN [OMIM

#615620], KRAS [OMIM #190070],



#601263], MED12 [OMIM #300188],

MLC1 [OMIM #605908], MTOR

[OMIM #601231], NDUFA1 [OMIM

#300078], NONO [OMIM #300084],

NRAS [OMIM #164790], OFD1 [OMIM

#300170],

PIGA [OMIM #311770], PIGN [OMIM

#606097], PIGT [OMIM #610272],

PIGV [OMIM #610274], PIK3R2

[OMIM #603157], PPP1CB [OMIM

#600590], PPP2R5D [OMIM #601646],

PTCH2 [OMIM #603673], PTPN11

[OMIM #176876], RAB39B [OMIM

#300774], RAF1 [OMIM #164760],


#609591], RNF135 [OMIM #611358],

ROR2 [OMIM #602337], RRAS [OMIM

#165090], SETD2 [OMIM #612778],

SHOC2 [OMIM #602775], SOS1


#601247], SUFU [OMIM #607035],

TBC1D7 [OMIM #612655], TMCO1


#300298], WNT5A [OMIM #164975],

ZDHHC9 [OMIM #300646])

Maligne Hyperthermie (MH)

(CACNA1S [OMIM #114208], RYR1

[OMIM #180901])




Workbench, GATK

Marfan-ähnliche Erkrankungen

(ADAMTSL4 [OMIM #610113], FBN2

[OMIM #612570], LTBP2 [OMIM

#602091], MED12 [OMIM #300188],

SKI [OMIM #164780], UPF3B [OMIM

#300298], ZDHHC9 [OMIM #300646])




Workbench, GATK

Marfan-Syndrom und Typ 1

Fibrillinopathien (FBN1 [OMIM

#134797], TGFBR1 [OMIM #190181],

TGFBR2 [OMIM #190182])




Workbench, GATK






Marfan-Syndrom und Typ 1

Fibrillinopathien (FBN1 [OMIM

#134797], TGFBR1 [OMIM #190181],





Workbench, GATK,

Gendosisbestimmung

Meckel-Gruber-Syndrom (B9D1

[OMIM #614144], B9D2 [OMIM

#611951], C5orf42 [OMIM #614571],

CC2D2A [OMIM #612013], CEP290


#610523], CSPP1 [OMIM #611654],

KIF14 [OMIM #611279], MKS1 [OMIM

#609883], NPHP3 [OMIM #608002],

RPGRIP1 [OMIM #605446], RPGRIP1L


#613846], TCTN3 [OMIM #613847],

TMEM138 [OMIM #614459],

TMEM216 [OMIM #613277],

TMEM231 [OMIM #614949],



#612014], WDPCP [OMIM #613580])




Workbench, GATK

Meckel-Gruber Syndrom (B9D1

[OMIM #614144], B9D2 [OMIM

#611951], CC2D2A [OMIM #612013],

CEP290 [OMIM #610142], MKS1

[OMIM #609883], RPGRIP1L [OMIM

#610937], TCTN2 [OMIM #613846],

TMEM138 [OMIM #614459],


[OMIM #609884])




Workbench, GATK

Meckel-Gruber-Syndrom (C5orf42


#610523], CSPP1 [OMIM #611654],

KIF14 [OMIM #611279], NPHP3

[OMIM #608002], RPGRIP1 [OMIM

#605446], TCTN3 [OMIM #613847],

TMEM231 [OMIM #614949],

TMEM237 [OMIM #614423], TTC21B


#613580])




Workbench, GATK





MEN1 / PGG- CDKN1B (OMIM

#600778), MAX (OMIM #154950),

MEN1 (OMIM #613733), RET (OMIM

#164761), SDHAF2 (OMIM #613019),

SDHB (OMIM #185470), SDHC (OMIM

#602413), SDHD (OMIM #602413),

VHL (OMIM #193300)

EDTA-Blut, DNA aus Blut Ampliseq, NGS semiconductor



SeqNext

Mikrozephaler Osteodysplastischer

Primordialer Kleinwuchs (MOPD2)

(PCNT [OMIM #605925])




Workbench, GATK

Mitochondriales Genom (37 Gene;

16,6 kb) bei V.a. LHON, MELAS,

MERFF oder mitochondriale Taubheit

(MT-ATP6 [OMIM #516060], MT-ATP8

[OMIM #516070], MT-CO2 [OMIM

#516040], MT-CO3 [OMIM #516050],

MT-COI [OMIM #516030], MT-CYB

[OMIM #516020], MT-L2 [OMIM

#590055], MT-ND1 [OMIM #516000],

MT-ND2 [OMIM #516001], MT-ND3

[OMIM #516002], MT-ND4 [OMIM

#516003], MT-ND4L [OMIM #516004],


[OMIM #516006], MT-RNR1 [OMIM

#180450], MT-RNR2 [OMIM

#180451], MT-TA [OMIM #590000],

MT-TD [OMIM #590015], MT-TE

[OMIM #590025], MT-TF [OMIM

#590070], MT-TG [OMIM #590035],

MT-TH [OMIM #590040], MT-TI

[OMIM #590045], MT-TK [OMIM

#590060], MT-TL1 [OMIM #590050],

MT-TM [OMIM #590065], MT-TN

[OMIM #590010], MT-TP [OMIM

#590075], MT-TQ [OMIM #590030],

MT-TR [OMIM #590005], MT-TS1


#590085],




Workbench, GATK

MT-TT [OMIM #590090], MT-TV

[OMIM #590105], MT-TV [OMIM

#590020], MT-TW [OMIM #590095],

MT-TY [OMIM #590100])





MODY-Diabetes (ABCC8 [OMIM

#600509], APPL1 [OMIM #604299],

BLK [OMIM #191305], CEL [OMIM

#114840], GCK [OMIM #138079],

HNF1A [OMIM #142410], HNF1B

[OMIM #189907], HNF4A [OMIM

#600281], INS [OMIM #176730],

KCNJ11 [OMIM #600937], KLF11

[OMIM #603301], NEUROD1 [OMIM

#601724], PAX4 [OMIM #167413],

PDX1 [OMIM #600733])




Workbench, GATK

MODY-Diabetes (ABCC8 [OMIM

#600509], APPL1 [OMIM #604299],

BLK [OMIM #191305], GCK [OMIM

#138079], HNF1A [OMIM #142410],

HNF1B [OMIM #189907], HNF4A

[OMIM #600281], INS [OMIM

#176730], KCNJ11 [OMIM #600937],

KLF11 [OMIM #603301], NEUROD1

[OMIM #601724], PAX4 [OMIM

#167413], PDX1 [OMIM #600733])




Workbench, GATK,

Gendosisbestimmung

mTOR Gesamt (AKT1 [OMIM

#164730], AKT1S1 [OMIM #610221],

AKT3 [OMIM #611223], DEPDC5

[OMIM #614191], DEPTOR [OMIM

#612974], DOCK7 [OMIM #615730],

MLST8 [OMIM #612190], MTOR


#607072], NPRL3 [OMIM #600928],

PAK2 [OMIM #605022], PIK3CA

[OMIM #171834], PIK3CD [OMIM

#602839], PIK3R2 [OMIM #603157],

PTEN [OMIM #601728], RPTOR

[OMIM #607130], STRADA [OMIM

#608626], TBC1D7 [OMIM #612655],

TSC1 [OMIM #605284], TSC2 [OMIM

#191092])




Workbench, GATK

Mukopolysaccharidosen (ARSB

[OMIM #611542], GALNS [OMIM

#612222], GLB1 [OMIM #611458],

GUSB [OMIM #611499], HGSNAT

[OMIM #610453], HYAL1 [OMIM

#607071], IDS [OMIM #300823], IDUA

[OMIM #252800], NAGLU [OMIM

#609701], SGSH [OMIM #605270])




Workbench, GATK





Muskeldystrophien (B3GALNT2

[OMIM #610194], B3GNT1 [OMIM

#605517], B4GAT1 [OMIM #605517],

CHKB [OMIM #612395], COL6A1


#120240], COL6A3 [OMIM #120250],

DAG1 [OMIM #128239], FHL1 [OMIM

#300163], FKRP [OMIM #606596],



#614631], ITGA7 [OMIM #600536],




#614828], POMK [OMIM #615247],


[OMIM #607439], SEPN1 [OMIM

#606210], TMEM5 [OMIM #605862])




Workbench, GATK

Muskeldystrophien

(Dystroglycanopathien Typ A+B)

(B3GALNT2 [OMIM #610194], B4GAT1

[OMIM #605517], DAG1 [OMIM

#128239], FKRP [OMIM #606596],



#614631], LARGE [OMIM #603590],

POMGNT1 [OMIM #606822],

POMGNT2 [OMIM #614828], POMK

[OMIM #615247], POMT1 [OMIM

#607423], POMT2 [OMIM #607439],

TMEM5 [OMIM #605862])




Workbench, GATK





Muskeldystrophien (erweiterte Panel-

Analyse) (B3GALNT2 [OMIM

#610194], B4GAT1 [OMIM #605517],

CHKB [OMIM #612395], COL6A1


#120240], COL6A3 [OMIM #120250],

DAG1 [OMIM #128239], FHL1 [OMIM

#300163], FKRP [OMIM #606596],



#614631], ITGA7 [OMIM #600536],




#614828], POMK [OMIM #615247],


[OMIM #607439], SEPN1 [OMIM

#606210], TMEM5 [OMIM #605862])




Workbench, GATK

Muskeldystrophien (Kollagen-

assoziierte und sonstige) (CHKB


#120220], COL6A2 [OMIM #120240],

COL6A3 [OMIM #120250], FHL1


#600536], SEPN1 [OMIM #606210])




Workbench, GATK





Muskelerkrankungen (ACADVL [OMIM

#609575], ACTA1 [OMIM #102610],

AGK [OMIM #610345], ALDOA [OMIM

#103850], ANO5 [OMIM #608662],

ASAH1 [OMIM #613468], ATP7A

[OMIM #300011], B3GALNT2 [OMIM

#610194], B3GNT1 [OMIM #605517],

B4GAT1 [OMIM #605517], BAG3

[OMIM #603883], BICD2 [OMIM

#609797], BIN1 [OMIM #601248],

BSCL2 [OMIM #606158], C10orf2

[OMIM #606075], CACNA1S [OMIM

#114208], CAPN3 [OMIM #114240],

CAV3 [OMIM #601253], CCDC78

[OMIM #614666], CFL2 [OMIM

#601443], CHCHD10 [OMIM

#615903], CHKB [OMIM #612395],

CLCN1 [OMIM #118425], CNTN1


#120220], COL6A2 [OMIM #120240],

COL6A3 [OMIM #120250], CPT2


#123590], DAG1 [OMIM #128239],

DES [OMIM #125660], DGUOK [OMIM

#601465], DMD [OMIM #300377],

DNAJB2 [OMIM #604139], DNAJB6


#602378], DYNC1H1 [OMIM

#600112], DYSF [OMIM #603009],




Workbench, GATK

EMD [OMIM #300384], ETFA [OMIM

#608053], ETFB [OMIM #130410],

ETFDH [OMIM #231675], EXOSC3

[OMIM #606489], EXOSC8 [OMIM

#606019], FBXL4 [OMIM #605654],

FBXO38 [OMIM #608533], FHL1

[OMIM #300163], FKRP [OMIM

#606596], FKTN [OMIM #607440],

FLNC [OMIM #102565], GAA [OMIM

#606800], GARS [OMIM #600287],

GMPPB [OMIM #615320],






GNE [OMIM #603824], HADHA [OMIM

#600890], HADHB [OMIM #143450],

HNRNPDL [OMIM #607137], HSPB8

[OMIM #608014], HSPG2 [OMIM


#600502], ISPD [OMIM #614631],

ITGA7 [OMIM #600536], KBTBD13


#613236], KCNJ2 [OMIM #600681],

KLHL40 [OMIM #615340], KLHL41

[OMIM #607701], KY [OMIM

#605739], LAMA2 [OMIM #156225],

LARGE [OMIM #603590], LDB3 [OMIM

#605906], LDHA [OMIM #150000],

LIMS2 [OMIM #607908], LMNA

[OMIM #150330], LMOD3 [OMIM

#616112], LPIN1 [OMIM #605518],

MEGF10 [OMIM #612453], MGME1

[OMIM #615076],

MPV17 [OMIM #137960], MTM1


#611089], MYF6 [OMIM #159991],


[OMIM #160760], MYOT [OMIM

#604103], NEB [OMIM #161650],

PFKM [OMIM #610681], PGAM2

[OMIM #612931], PHKA1 [OMIM

#311870], PHKB [OMIM #172490],

PLEC [OMIM #601282], PLEKHG5




#614828], POMK [OMIM #615247],


[OMIM #607439], PYGM [OMIM

#608455], PYROXD1 [OMIM #617220],

REEP1 [OMIM #609139], RRM2B

[OMIM #604712],







RYR1 [OMIM #180901], SCN4A [OMIM

#603967], SEPN1 [OMIM #606210],

SGCA [OMIM #600119], SGCB [OMIM

#600900], SGCD [OMIM #601411],

SGCG [OMIM #608896], SLC25A20


#103220], SLC5A7 [OMIM #608761],

SPEG [OMIM #615950], SUCLA2

[OMIM #603921], SUCLG1 [OMIM

#611224], SYNE1 [OMIM #608441],

SYNE2 [OMIM #608442],

TCAP [OMIM #604488], TFG [OMIM

#602498], TK2 [OMIM #188250],


[OMIM #605862], TNNT1 [OMIM

#191041], TNPO3 [OMIM #610032],


#191030], TRAPPC11 [OMIM

#614138], TRIM32 [OMIM #602290],

TRPV4 [OMIM #605427], TTN [OMIM

#188840], TYMP [OMIM #131222],

UBA1 [OMIM #314370], VAPB [OMIM

#605704], VCP [OMIM #601023],

VRK1 [OMIM #602168])

Myofibrilläre Myopathien (BAG3


#123590], DES [OMIM #125660],

DNAJB6 [OMIM #611332], FHL1

[OMIM #300163], FLNC [OMIM

#102565], LDB3 [OMIM #605906],

MYOT [OMIM #604103])




Workbench, GATK






Myeloische Neoplasien (ASXL1 [OMIM

#612990], BCOR [OMIM #300485],

BRAF [OMIM #164757], CALR [OMIM

#109091], CBL [OMIM #165360],

CDKN2A [OMIM #600160],CEBPa

[OMIM #116897], CSF3R [OMIM #

138971], CUX1 [OMIM #116896],

DNMT3A [OMIM #602769], ELANE

[OMIM #130130], ETNK1 [OMIM #

609858], ETV6 [OMIM #600618],

EZH2 [OMIM #601573], GATA2

[OMIM #137295], GNAS [OMIM

#139320], HRAS [OMIM #190020],

IDH1 [OMIM #147700], IDH2 [OMIM

#147650], xK2 [OMIM #147796], KIT


#190070], MPL [OMIM #159530],

NPM1 [OMIM #164040], NRAS [OMIM

#164790], PHF6 [OMIM #300414],

PRPF8 [OMIM #607300], PTEN [OMIM

#601728], PTPN11 [OMIM #176876],

RAD21 [OMIM #606462], RUNX1

[OMIM #151385], SETBP1 [OMIM

#269150], SF3B1 [OMIM #605590],

SRSF2 [OMIM #600813], SRSF2

[OMIM #600813], TET2 [OMIM

#612839], TP53 [OMIM #191170],

U2AF1 [OMIM #191317], WT1 [OMIM

#194070], ZRSR2 [OMIM #300028])

EDTA-Blut, DNA aus Blut,

Knochenmark, DNA aus FFPE-Gewebe




SeqNext





Nephronophthise (NPHP) (AHI1

[OMIM #608894], ANKS6 [OMIM

#615370], ATXN10 [OMIM #611150],

CC2D2A [OMIM #612013], CEP164

[OMIM #614848], CEP290 [OMIM

#610142], CEP83 [OMIM #615847],

DCDC2 [OMIM #605755], GLIS2

[OMIM #608539], IFT172 [OMIM

#607386], INVS [OMIM #243305],

IQCB1 [OMIM #609237], MAPKBP1


#609799], NPHP1 [OMIM #607100],

NPHP3 [OMIM #608002], NPHP4



#610937], SDCCAG8 [OMIM #613524],

SLC41A1 [OMIM #610801], TMEM216


#614423], TMEM67 [OMIM #609884],

TTC21B [OMIM #612014], WDR19

[OMIM #608151], XPNPEP3 [OMIM

#613553], ZNF423 [OMIM #604557])




Workbench, GATK

Nephronophthise (NPHP) (CEP290

[OMIM #610142], GLIS2 [OMIM

#608539], INVS [OMIM #243305],

IQCB1 [OMIM #609237], NPHP1


#608002], NPHP4 [OMIM #607215])




Workbench, GATK





Nephronophthise (NPHP) (AHI1

[OMIM #608894], ANKS6 [OMIM

#615370], ATXN10 [OMIM #611150],

CC2D2A [OMIM #612013], CEP164


#615847], DCDC2 [OMIM #605755],

IFT172 [OMIM #607386], MAPKBP1


#609799], PAX2 [OMIM #167409],

RPGRIP1L [OMIM #610937], SDCCAG8


#610801], TMEM216 [OMIM

#613277], TMEM237 [OMIM

#614423], TMEM67 [OMIM #609884],

TTC21B [OMIM #612014], WDR19

[OMIM #608151], XPNPEP3 [OMIM

#613553], ZNF423 [OMIM #604557])




Workbench, GATK

Nephrotisches Syndrom (NS) / Fokal

segmentale Glomerulosklerose (FSGS)

(ACTN4 [OMIM #604638], ADCK4


#605907], ANLN [OMIM #616027],

APOL1 [OMIM #603743], ARHGAP24

[OMIM #610586], ARHGDIA [OMIM

#601925], CD2AP [OMIM #604241],

CFH [OMIM #134370], COL4A3


#120131], COL4A5 [OMIM #303630],

COQ2 [OMIM #609825], COQ6 [OMIM

#614647], CRB2 [OMIM #609720],

CUBN [OMIM #602997], DGKE [OMIM

#601440], EMP2 [OMIM #602334],

GLA [OMIM #300644], INF2 [OMIM

#610982], ITGA3 [OMIM #605025],

ITGB4 [OMIM #147557], KANK1

[OMIM #607704],




Workbench, GATK






KANK2 [OMIM #614610], KANK4

[OMIM #614612], LAMB2 [OMIM

#150325], LMX1B [OMIM #602575],

MEFV [OMIM #608107], MYH9

[OMIM #160775], MYO1E [OMIM

#601479], NEIL1 [OMIM #608844],

NPHS1 [OMIM #602716], NPHS2


#167409], PDSS2 [OMIM #610564],

PLCE1 [OMIM #608414], PMM2

[OMIM #601785], PTPRO [OMIM #600579], SCARB2

[OMIM #602257], SMARCAL1 [OMIM

#606622], TRAP1 [OMIM #606219],

TRPC6 [OMIM #603652], WT1 [OMIM

#607102], ZMPSTE24 [OMIM

#606480])



(ACTN4 [OMIM #604638], CD2AP

[OMIM #604241], INF2 [OMIM

#610982], NPHS1 [OMIM #602716],

NPHS2 [OMIM #604766], PLCE1


#603652], WT1 [OMIM #607102])




Workbench, GATK








(ADCK4 [OMIM #615567], ANLN

[OMIM #616027], APOL1 [OMIM

#603743], ARHGAP24 [OMIM

#610586], ARHGDIA [OMIM #601925],

CFH [OMIM #134370], COL4A3


#120131], COL4A5 [OMIM #303630],

COQ2 [OMIM #609825], COQ6 [OMIM

#614647], CRB2 [OMIM #609720],

CUBN [OMIM #602997], DGKE [OMIM

#601440], EMP2 [OMIM #602334],

GLA [OMIM #300644], ITGA3 [OMIM

#605025], ITGB4 [OMIM #147557],

KANK1 [OMIM #607704], KANK2

[OMIM #614610], KANK4 [OMIM

#614612], LAMB2 [OMIM #150325],

LMX1B [OMIM #602575], MYH9

[OMIM #160775], MYO1E [OMIM

#601479], NEIL1 [OMIM #608844],

PAX2 [OMIM #167409], PDSS2 [OMIM

#610564], PTPRO [OMIM #600579],

SCARB2 [OMIM #602257], SMARCAL1

[OMIM #606622])




Workbench, GATK

Neurofibromatose Typ 1/Legius-

Syndrom (NF1 [OMIM #613113],

SPRED1 [OMIM #609291])




Workbench, GATK

Neurofibromatose Typ 1/Legius-

Syndrom (NF1 [OMIM #613113],

SPRED1 [OMIM #609291])




Workbench, GATK,

Gendosisbestimmung





Neurogenetische Erkrankungen (AARS

[OMIM #601065], ABCB7 [OMIM

#300135], ABHD12 [OMIM #613599],

ADCK3 [OMIM #606980], ADCY5

[OMIM #600293], ADGRG1 [OMIM

#604110], ADGRV1 [OMIM #602851],

AFG3L2 [OMIM #604581], AHI1


#300169], ALDH7A1 [OMIM #107323],

ALG13 [OMIM #300776], ANO10

[OMIM #613726], AP3B2 [OMIM

#602166], APP [OMIM #104760],

APTX [OMIM #606350], ARHGEF10


#608504], ARHGEF9 [OMIM #300429],

ARL13B [OMIM #608922], ARSA

[OMIM #607574], ARV1 [OMIM

#611647], ARX [OMIM #300382], ATL1

[OMIM #606439], ATL3 [OMIM

#609369], ATM [OMIM #607585],

ATN1 [OMIM #607462], ATP1A2

[OMIM #182340], ATP7A [OMIM

#300011], ATP8A2 [OMIM #605870],

ATXN1 [OMIM #601556], ATXN10


#601517], ATXN3 [OMIM #607047],

ATXN7 [OMIM #607640], BAG3

[OMIM #603883], BRAT1 [OMIM

#614506], BSCL2 [OMIM #606158],




Workbench, GATK

C5orf42 [OMIM #614571], CA8

[OMIM #114815], CACNA1A [OMIM


#604065], CACNA1H [OMIM

#607904], CACNB4 [OMIM #601949],

CAD [OMIM #114010], CAPN1 [OMIM

#114220], CASR [OMIM #601199],

CC2D2A [OMIM #612013], CCDC88C

[OMIM #611204], CCT5 [OMIM

#610150], CDKL5 [OMIM #300203],

CEP290 [OMIM #610142],






CEP41 [OMIM #610523], CERS1


#602119], CHRNA2 [OMIM #118502],

CHRNA4 [OMIM #118504], CHRNB2


#600570], CLCN4 [OMIM #302910],

CLN5 [OMIM #608102], CLN6 [OMIM

#606725], COX6A1 [OMIM #602072],

CPA6 [OMIM #609562], CSPP1 [OMIM

#611654], CSTB [OMIM #601145],

CTDP1 [OMIM #604927], DARS2

[OMIM #610956], DCTN1 [OMIM

#601143], DCX [OMIM #300121],

DENND5A [OMIM #617278], DEPDC5


#611203], DNM1 [OMIM #602377],

DNM2 [OMIM #602378], DNMT1

[OMIM #126375],

DOCK7 [OMIM #615730], DYNC1H1


#600855], EEF1A2 [OMIM #602959],

EEF2 [OMIM #130610], EFHC1 [OMIM

#608815], EGR2 [OMIM #129010],



#606273], EIF2B4 [OMIM #606687],

EIF2B5 [OMIM #603945], ELOVL4

[OMIM #605512], ELOVL5 [OMIM

#611805], ELP4 [OMIM #606985],

EPM2A [OMIM #607566], FAM134B

[OMIM #613114], FASN [OMIM

#600212], FGD4 [OMIM #611104],

FGF12 [OMIM #601513], FGF14

[OMIM #601515], FIG4 [OMIM

#609390], FLVCR1 [OMIM #609144],

FOXG1 [OMIM #164874], FRRS1L

[OMIM #604574], FTL [OMIM

#134790], GABBR2 [OMIM #607340],







GABRA1 [OMIM #137160], GABRB1

[OMIM #137190], GABRB3 [OMIM

#137192], GABRD [OMIM #137163],

GABRG2 [OMIM #137164], GAL

[OMIM #137035], GAN [OMIM

#605379], GARS [OMIM #600287],

GBA2 [OMIM #609471], GDAP1


#304040], GLRA1 [OMIM #138491],

GLRB [OMIM #138492], GLUL [OMIM

#138290], GM2A [OMIM #613109],

GNAO1 [OMIM #139311], GOSR2

[OMIM #604027], GPHN [OMIM

#603930], GRID2 [OMIM #602368],

GRIN2A [OMIM #138253], GRIN2B

[OMIM #138252], GRIN2D [OMIM

#602717], GRM1 [OMIM #604473],

GUF1 [OMIM #617064], HARS [OMIM

#142810], HCN1 [OMIM #602780],

HDAC4 [OMIM #605314], HK1 [OMIM

#142600], HOXD10 [OMIM #142984],

HSPB1 [OMIM #602195], HSPB3



#600502], IKBKAP [OMIM #603722],

INPP5E [OMIM #613037], IQSEC2

[OMIM #300522], ITPA [OMIM

#147520], ITPR1 [OMIM #147265],

KARS [OMIM #601421], KCNA1


#176262], KCNB1 [OMIM #600397],

KCNC1 [OMIM #176258], KCNC3


#605411], KCNH5 [OMIM #605716],

KCNMA1 [OMIM #600150], KCNQ2


#602232], KCNT1 [OMIM #608167],







KCTD7 [OMIM #611725], KIAA0586

[OMIM #610178], KIF1A [OMIM

#601255], KIF1B [OMIM #605995],

KIF1C [OMIM #603060], KIF7 [OMIM

#611254], LGI1 [OMIM #604619],

LITAF [OMIM #603795], LMNA [OMIM

#150330], LMNB2 [OMIM #150341],

LRSAM1 [OMIM #610933], MARS [OMIM #156560], MARS2


#611472], MECP2 [OMIM #300005],

MED25 [OMIM #610197], MEF2C

[OMIM #600662], MFN2 [OMIM

#608507], MME [OMIM #120520],

MORC2 [OMIM #616661], MPZ

[OMIM #159440], MRE11A [OMIM

#600814], MTMR2 [OMIM #603557],

MTPAP [OMIM #613669], NDRG1

[OMIM #605262], NECAP1 [OMIM

#611623], NEFH [OMIM #162230],

NEFL [OMIM #162280], NGF [OMIM

#162030], NHLRC1 [OMIM #608072],

NIPA2 [OMIM #608146], NKX2-1

[OMIM #600635], NPC1 [OMIM

#607623], NPC2 [OMIM #601015],

NPHP1 [OMIM #607100], NPRL2


#600928], NTRK1 [OMIM #191315],

OFD1 [OMIM #300170], OPA1 [OMIM

#605290], OPA3 [OMIM #606580],

PCDH19 [OMIM #300460], PDE10A

[OMIM #610652], PDE6D [OMIM

#602676], PDYN [OMIM #131340],

PEX10 [OMIM #602859],







PEX2 [OMIM #170993], PIGA [OMIM

#311770], PIK3AP1 [OMIM #607942],

PIK3R5 [OMIM #611317], PLA2G6

[OMIM #603604], PLCB1 [OMIM

#607120], PLEKHG5 [OMIM #611101],

PMP22 [OMIM #601097], PNKP

[OMIM #605610], PNPLA6 [OMIM

#603197], PNPO [OMIM #603287],

POC1B [OMIM #614784], POLG

[OMIM #174763], PRDM12 [OMIM

#616458], PRDM8 [OMIM #616639],

PRICKLE1 [OMIM #608500], PRICKLE2

[OMIM #608501], PRKCG [OMIM

#176980], PRNP [OMIM #176640],

PRPS1 [OMIM #311850], PRRT2

[OMIM #614386], PRX [OMIM

#605725], PSEN1 [OMIM #104311],

PSEN2 [OMIM #600759], RAB7A

[OMIM #602298], RANBP2 [OMIM

#601181], RANGAP1 [OMIM

#602362], REEP1 [OMIM #609139],

RELN [OMIM #600514], RNF216

[OMIM #609948], ROGDI [OMIM


#610937], RYR3 [OMIM #180903],

SACS [OMIM #604490], SBF1 [OMIM

#603560], SBF2 [OMIM #607697],

SCARB2 [OMIM #602257],



#600235], SCN2A [OMIM #182390],


[OMIM #603415], SEPT9 [OMIM

#604061], SETX [OMIM #608465],

SH3TC2 [OMIM #608206], SIK1

[OMIM #605705], SIL1 [OMIM

#608005], SLC12A5 [OMIM #606726],

SLC12A6 [OMIM #604878], SLC13A5


#600300], SLC1A3 [OMIM #600111],







SLC25A12 [OMIM #603667],

SLC25A22 [OMIM #609302], SLC2A1


#314375], SLC5A7 [OMIM #608761],


[OMIM #604159], SNX14 [OMIM

#616105], SOX10 [OMIM #602229],

SPG11 [OMIM #610844], SPG7 [OMIM

#602783], SPTAN1 [OMIM #182810],

SPTBN2 [OMIM #604985], SPTLC1

[OMIM #605712], SPTLC2 [OMIM

#605713], SRPX2 [OMIM #300642],

ST3GAL3 [OMIM #606494], STUB1

[OMIM #607207], STX1B [OMIM

#601485], STXBP1 [OMIM #602926],

SURF1 [OMIM #185620], SYN1 [OMIM

#313440], SYNE1 [OMIM #608441],

SYNGAP1 [OMIM #603384],

SYT14 [OMIM #610949], SZT2 [OMIM

#615463], TBC1D24 [OMIM #613577],

TBP [OMIM #600075], TCTN1 [OMIM

#609863], TCTN2 [OMIM #613846],

TCTN3 [OMIM #613847], TDP1 [OMIM

#607198], TFG [OMIM #602498],

TGM6 [OMIM #613900], TMEM138


#613277], TMEM231 [OMIM

#614949], TMEM237 [OMIM

#614423], TMEM240 [OMIM

#616101], TMEM67 [OMIM #609884],

TNK2 [OMIM #606994], TRIM2 [OMIM

#614141], TRPC3 [OMIM #602345],

TRPV4 [OMIM #605427], TTBK2


#612014], UBA5 [OMIM #610552],

VAMP1 [OMIM #185880], VCP [OMIM

#601023], VLDLR [OMIM #192977],

VPS13A [OMIM #605978], WNK1

[OMIM #605232], WWOX [OMIM

#605131], XK [OMIM #314850], YARS

[OMIM #603623], ZNF423 [OMIM

#604557])






Neutropenie, kongenital (AP3B1

[OMIM #603401], CLPB [OMIM

#616254], CSF3R [OMIM #138971],

CXCR4 [OMIM #162643], ELANE


#611045], GATA1 [OMIM #305371],


#600871], HAX1 [OMIM #605998],

xGN1 [OMIM #616012], LAMTOR2

[OMIM #610389], LYST [OMIM

#606897], RAB27A [OMIM #603868],

SBDS [OMIM #607444], SLC37A4


#300394], USB1 [OMIM #613276],

VPS13B [OMIM #607817], VPS45

[OMIM #610035], WAS [OMIM

#300392])




Workbench, GATK,

Gendosisbestimmung



#616254], CSF3R [OMIM #138971],



#611045], GATA1 [OMIM #305371],


#600871], HAX1 [OMIM #605998],


[OMIM #610389], LYST [OMIM

#606897], RAB27A [OMIM #603868],

SBDS [OMIM #607444], SLC37A4


#300394], USB1 [OMIM #613276],

VPS13B [OMIM #607817], VPS45

[OMIM #610035], WAS [OMIM

#300392])




Workbench, GATK







#616254], CSF3R [OMIM #138971],



#611045], GATA1 [OMIM #305371],


#600871], HAX1 [OMIM #605998],


[OMIM #610389], RAB27A [OMIM

#603868], SBDS [OMIM #607444],

SLC37A4 [OMIM #602671], TAZ

[OMIM #300394], USB1 [OMIM

#613276], VPS45 [OMIM #610035],

WAS [OMIM #300392])




Workbench, GATK

Neutropenie, kongenital (LYST [OMIM

#606897], VPS13B [OMIM #607817])




Workbench, GATK

Nicht akute Porphyrien (ALAS2

[OMIM #301300], FECH [OMIM

#612386], UROD [OMIM #613521],

UROS [OMIM #606938])




Workbench, GATK

Nicht-dystrophische Myotonien

(CLCN1 [OMIM #118425], HSPG2


#603967])




Workbench, GATK

Nicht-dystrophische Myotonien und

periodische Paralysen (CACNA1S


#118425], HSPG2 [OMIM #142461],



#603967])




Workbench, GATK





Nierenagenesie/Hypoplasie (ANOS1


#112262], CDC5L [OMIM #602868],

DSTYK [OMIM #612666], FGF20


#607830], FREM1 [OMIM #608944],

FREM2 [OMIM #608945], GREM1

[OMIM #603054], HNF1B [OMIM

#189907], ITGA8 [OMIM #604063],

PAX2 [OMIM #167409], RET [OMIM

#164761], SALL1 [OMIM #602218],

SIX2 [OMIM #604994], TRAP1 [OMIM

#606219], UPK3A [OMIM #611559],

WNT4 [OMIM #603490])




Workbench, GATK

Nierenagenesie/Hypoplasie (BMP4

[OMIM #112262], CDC5L [OMIM

#602868], DSTYK [OMIM #612666],

FGF20 [OMIM #605558], HNF1B


#604063], PAX2 [OMIM #167409], RET

[OMIM #164761], SALL1 [OMIM

#602218], SIX2 [OMIM #604994],

TRAP1 [OMIM #606219], UPK3A

[OMIM #611559])




Workbench, GATK

Nierenagenesie/Hypoplasie (ANOS1


#607830], FREM1 [OMIM #608944],

FREM2 [OMIM #608945], GREM1

[OMIM #603054], WNT4 [OMIM

#603490])




Workbench, GATK

Non-compaction Kardiomyopathie

(NCCM) (ACTC1 [OMIM #102540],

CASQ2 [OMIM #114251], HCN4


#605906], MYBPC3 [OMIM #600958],

MYH7 [OMIM #160760], PRDM16


#300394], TNNT2 [OMIM #191045],

TPM1 [OMIM #191010])




Workbench, GATK





Non-compaction Kardiomyopathie

(NCCM) (ACTC1 [OMIM #102540],

CASQ2 [OMIM #114251], HCN4


#605906], MYBPC3 [OMIM #600958],

MYH7 [OMIM #160760], PRDM16


#300394], TNNT2 [OMIM #191045],

TPM1 [OMIM #191010])




Workbench, GATK,

Gendosisbestimmung


#164757], CBL [OMIM #165360], KRAS

[OMIM #190070], LZTR1 [OMIM

#600574], MAP2K1 [OMIM #176872],

MAP2K2 [OMIM #601263], NF1


#164790], PPP1CB [OMIM #600590],



#601589], RIT1 [OMIM #609591],



#182530], SOS2 [OMIM #601247])




Workbench, GATK


#164757], CBL [OMIM #165360], KRAS

[OMIM #190070], LZTR1 [OMIM

#600574], MAP2K1 [OMIM #176872],

MAP2K2 [OMIM #601263], NF1


#164790], PPP1CB [OMIM #600590],



#601589], RIT1 [OMIM #609591],



#182530], SOS2 [OMIM #601247])




Workbench, GATK,

Gendosisbestimmung

Noonan-Syndrom Stufe I (PTPN11

[OMIM #176876])




Workbench, GATK

Noonan-Syndrom Stufe I (PTPN11

[OMIM #176876])




Workbench, GATK,

Gendosisbestimmung





Noonan-Syndrom Stufe II (BRAF

[OMIM #164757], CBL [OMIM

#165360], KRAS [OMIM #190070],



#601263], MRAS [OMIM #608435],

NRAS [OMIM #164790], PPP1CB


#164760], RASA2 [OMIM #601589],

RIT1 [OMIM #609591], RRAS [OMIM

#165090], SHOC2 [OMIM #602775],

SOS1 [OMIM #182530], SOS2 [OMIM

#601247])




Workbench, GATK

Noonan-Syndrom Stufe II (BRAF


#165360], KRAS [OMIM #190070],



#601263], MRAS [OMIM #608435],



#164760], RASA2 [OMIM #601589],

RIT1 [OMIM #609591], RRAS [OMIM

#165090], SHOC2 [OMIM #602775],

SOS1 [OMIM #182530], SOS2 [OMIM

#601247])




Workbench, GATK,

Gendosisbestimmung

Omenn-Syndrom (OS) (ADA [OMIM

#608958], AK2 [OMIM #103020],

DCLRE1C [OMIM #605988], IL2RG


#146661], xK3 [OMIM #600173], LIG4


#179615], RAG2 [OMIM #179616],

RMRP [OMIM #157660])




Workbench, GATK





Oncomine Focus- ALK (OMIM

#105590), AR (OMIM #313700), BIRC2

(OMIM #601712), BRAF (OMIM

#164757), BRCA1 (OMIM #113705),

CCND1 (OMIM #168461), CDK4

(OMIM #123829), CDK6 (OMIM

#603368), CTNNB1 (OMIM #116806),

EGFR (OMIM #131550), ERBB2 (OMIM

#164870), ERBB3 (OMIM #190151),

ERBB4 (OMIM #600543), FGFR1

(OMIM #136350), FGFR2 (OMIM

#176943), FGFR3 (OMIM #134934),

FGFR4 (OMIM #134935), GNA11

(OMIM #139313), GNAQ (OMIM

#600998), HRAS (OMIM #190020),

IDH1 (OMIM #147700), IDH2 (OMIM

#147650), xK1 (OMIM #147795), xK2

(OMIM #147796), xK3 (OMIM

#600173), KIT (OMIM #164920), KRAS

(OMIM #190070), MAP2K1 (OMIM

#176872), MED12 (300188), MET

(OMIM #164860), MTOR (OMIM

#607130), MYC (OMIM #190080),

MYCN (OMIM #164840), NF1 (OMIM

#162200), NRAS (OMIM #164790),

PDGFRa (OMIM #173490), PIK3CA

(OMIM #171834), RAF1 (OMIM

#164760), RET (OMIM #164761),

ROS1 (OMIM #165020), SMO (OMIM

#601500)

DNA aus FFPE-Gewebe, DNA und RNA

aus Tumorgewebe, DNA und cDNA




Oro-facio-digitales Syndrom (C2CD3


#614571], DDX59 [OMIM #615464],

OFD1 [OMIM #300170], TCTN3


#613277], TMEM231 [OMIM

#614949])




Workbench, GATK





Osteogenesis imperfecta (OI) (BMP1


#120150], COL1A2 [OMIM #120160],

CRTAP [OMIM #605497], FKBP10

[OMIM #607063], IFITM5 [OMIM

#614757], LEPRE1 [OMIM #610339],

P3H1 [OMIM #610339], PLOD2

[OMIM #601865], PPIB [OMIM

#123841], SERPINF1 [OMIM

#172860], SERPINH1 [OMIM

#600943], SP7 [OMIM #606633],

TMEM38B [OMIM #611236], WNT1

[OMIM #164820])




Workbench, GATK

Osteogenesis Imperfecta autosomal-

dominant (COL1A1 [OMIM #120150],

COL1A2 [OMIM #120160], IFITM5

[OMIM #614757], WNT1 [OMIM

#164820])




Workbench, GATK

Osteogenesis Imperfecta autosomal-

rezessiv (BMP1 [OMIM #112264],

CRTAP [OMIM #605497], FKBP10

[OMIM #607063], LEPRE1 [OMIM

#610339], P3H1 [OMIM #610339],

PLOD2 [OMIM #601865], PPIB [OMIM

#123841], SERPINF1 [OMIM

#172860], SERPINH1 [OMIM

#600943], SP7 [OMIM #606633],

TMEM38B [OMIM #611236], WNT1

[OMIM #164820])




Workbench, GATK

Ovarialkarzinom (BRCA1 [OMIM #

113705], BRCA2 [OMIM #600185],

CHEK2 [OMIM #604373], PALB2

[OMIM #610355], RAD51C [OMIM

#602774])




Workbench, GATK

Ovarialkarzinom (ATM [OMIM #

607585], CDH1 [OMIM #192090], NBN

[OMIM #602667], RAD51D [OMIM

#602954], TP53 [OMIM #191170])




Workbench, GATK

Pankreatitis, hereditäre (CASR [OMIM

#601199], CFTR [OMIM #602421],

CPA1 [OMIM #114850], CTRC [OMIM

#601405], PRSS1 [OMIM #276000],

SPINK1 [OMIM #167790])




Workbench, GATK





Pankreatitis, hereditäre (CASR [OMIM

#601199], CFTR [OMIM #602421],

CPA1 [OMIM #114850], CTRC [OMIM

#601405], PRSS1 [OMIM #276000],

SPINK1 [OMIM #167790])




Workbench, GATK,

Gendosisbestimmung

Periodische Paralysen (CACNA1S


#613236], KCNJ2 [OMIM #600681],

SCN4A [OMIM #603967])




Workbench, GATK


(BICC1 [OMIM #614295], BMP4


#613039], FRAS1 [OMIM #607830],

HNF1B [OMIM #189907], MUC1

[OMIM #158340], OFD1 [OMIM

#300170], PAX2 [OMIM #167409],

PKD1 [OMIM #601313], PKD2 [OMIM

#173910], PKHD1 [OMIM #606702],

ROBO2 [OMIM #602431], SIX2 [OMIM

#604994], UMOD [OMIM #191845])




Workbench, GATK

Polyzystische Nierenerkrankung -

autosomal-dominant (BMP4 [OMIM

#112262], HNF1B [OMIM #189907],

PAX2 [OMIM #167409], PKD1 [OMIM

#601313], PKD2 [OMIM #173910])




Workbench, GATK


(BICC1 [OMIM #614295], CHD1L


#607830], MUC1 [OMIM #158340],

OFD1 [OMIM #300170], PKHD1

[OMIM #606702], ROBO2 [OMIM

#602431], SIX2 [OMIM #604994],

UMOD [OMIM #191845])




Workbench, GATK

Polyzystische Nierenerkrankung -

autosomal-rezessiv (FRAS1 [OMIM

#607830], PKHD1 [OMIM #606702])




Workbench, GATK






(BICC1 [OMIM #614295], BMP4


#613039], HNF1B [OMIM #189907],

MUC1 [OMIM #158340], OFD1 [OMIM

#300170], PAX2 [OMIM #167409],

PKD1 [OMIM #601313], PKD2 [OMIM

#173910], ROBO2 [OMIM #602431],

SIX2 [OMIM #604994], UMOD [OMIM

#191845])




Workbench, GATK

Porphyrien (ALAD [OMIM #125270],

ALAS2 [OMIM #301300], CPOX [OMIM

#612732], FECH [OMIM #612386],

HMBS [OMIM #609806], PPOX [OMIM

#600923], UROD [OMIM #613521],

UROS [OMIM #606938])




Workbench, GATK

Primäre (a-r) Mikrozephalien (ASPM

[OMIM #605481], CASC5 [OMIM

#609173], CDK5RAP2 [OMIM

#608201], CDK6 [OMIM #603368],

CENPE [OMIM #117143], CENPJ

[OMIM #609279], CEP135 [OMIM

#611423], CEP152 [OMIM #613529],

MCPH1 [OMIM #607117], MFSD2A

[OMIM #614397], PCNT [OMIM

#605925], PHC1 [OMIM #602978],

SASS6 [OMIM #609321], STIL [OMIM

#181590], WDR62 [OMIM #613583],

ZNF335 [OMIM #610827])




Workbench, GATK

Primäre (a-r) Mikrozephalien (ASPM

[OMIM #605481], CDK5RAP2 [OMIM

#608201], CENPJ [OMIM #609279],

MCPH1 [OMIM #607117], SASS6

[OMIM #609321])




Workbench, GATK

Primäre (a-r) Mikrozephalien (CASC5

[OMIM #609173], CDK6 [OMIM

#603368], CENPE [OMIM #117143],

CEP135 [OMIM #611423], CEP152

[OMIM #613529], MFSD2A [OMIM

#614397], PCNT [OMIM #605925],

PHC1 [OMIM #602978], STIL [OMIM

#181590], WDR62 [OMIM #613583],

ZNF335 [OMIM #610827])




Workbench, GATK





Primäre Hypercholesterinämie (APOB

[OMIM #107730], LDLR [OMIM

#606945], LDLRAP1 [OMIM #605747],

PCSK9 [OMIM #607786])




Workbench, GATK

Primäre Hyperlipoproteinämie

(ABCA1 [OMIM #600046], ANGPTL3


#107680], APOA5 [OMIM #606368],



#107741], GPIHBP1 [OMIM #612757],

LCAT [OMIM #606967], LDLR [OMIM

#606945], LDLRAP1 [OMIM #605747],

LIPC [OMIM #151670], LPL [OMIM

#609708], MTTP [OMIM #157147],

PCSK9 [OMIM #607786])




Workbench, GATK

Primäre Hypertriglyceridämie (APOA5

[OMIM #606368], APOC2 [OMIM

#608083], GPIHBP1 [OMIM #612757],

LPL [OMIM #609708])




Workbench, GATK





Primäre ziliäre Dyskinesie (ARMC4


#615494], CCDC103 [OMIM #614677],

CCDC114 [OMIM #615038], CCDC151


#613798], CCDC40 [OMIM #613799],

CCDC65 [OMIM #611088], CCNO

[OMIM #607752], CENPF [OMIM

#600236], DNAAF1 [OMIM #613190],

DNAAF2 [OMIM #612517], DNAAF3

[OMIM #614566], DNAAF5 [OMIM

#614864], DNAH1 [OMIM #603332],

DNAH11 [OMIM #603339], DNAH5


#603337], DNAI1 [OMIM #604366],

DNAI2 [OMIM #605483], DNAJB13

[OMIM #610263], DNAL1 [OMIM

#610062], DRC1 [OMIM #615288],

DYX1C1 [OMIM #608706], GAS8

[OMIM #605178], HYDIN [OMIM

#610812], LRRC6 [OMIM #614930],

MCIDAS [OMIM #614086], NME8

[OMIM #607421], RSPH1 [OMIM

#609314], RSPH3 [OMIM #615876],

RSPH4A [OMIM #612647], RSPH9

[OMIM #612648], SPAG1 [OMIM

#603395], TTC25 [OMIM #617095],

ZMYND10 [OMIM #607070])




Workbench, GATK

Primäre ziliäre Dyskinesie (CCDC103


#613798], DNAH5 [OMIM #603335],

DNAI1 [OMIM #604366], RSPH1

[OMIM #609314], SPAG1 [OMIM

#603395], ZMYND10 [OMIM

#607070])




Workbench, GATK





Primäre ziliäre Dyskinesie (ARMC4


#615494], CCDC114 [OMIM #615038],

CCDC151 [OMIM #615956], CCDC40


#611088], CCNO [OMIM #607752],

CENPF [OMIM #600236], DNAAF1


#612517], DNAAF3 [OMIM #614566],

DNAAF5 [OMIM #614864], DNAH1


#603339], DNAH8 [OMIM #603337],



#610062], DRC1 [OMIM #615288],

DYX1C1 [OMIM #608706], GAS8

[OMIM #605178], HYDIN [OMIM

#610812], LRRC6 [OMIM #614930],

MCIDAS [OMIM #614086], NME8


#615876], RSPH4A [OMIM #612647],

RSPH9 [OMIM #612648], TTC25

[OMIM #617095])




Workbench, GATK





Progressive Muskeldystrophien

(ANO5 [OMIM #608662], CAPN3


#601253], DAG1 [OMIM #128239],

DES [OMIM #125660], DMD [OMIM

#300377], DNAJB6 [OMIM #611332],

DYSF [OMIM #603009], EMD [OMIM

#300384], FHL1 [OMIM #300163],

FKRP [OMIM #606596], FKTN [OMIM

#607440], GAA [OMIM #606800],

GMPPB [OMIM #615320], HNRNPDL


#614631], LIMS2 [OMIM #607908],

LMNA [OMIM #150330], MYOT

[OMIM #604103], PLEC [OMIM


#606822], POMK [OMIM #615247],


[OMIM #607439], SGCA [OMIM

#600119], SGCB [OMIM #600900],

SGCD [OMIM #601411], SGCG [OMIM

#608896], SYNE1 [OMIM #608441],

SYNE2 [OMIM #608442], TCAP [OMIM

#604488], TMEM43 [OMIM #612048],

TNPO3 [OMIM #610032], TRAPPC11

[OMIM #614138], TRIM32 [OMIM

#602290], TTN [OMIM #188840])




Workbench, GATK

Progressive Muskeldystrophien

(Gliedergürtelmuskeldystrophien AD +

AR) (ANO5 [OMIM #608662], CAPN3


#601253], DYSF [OMIM #603009],

FKRP [OMIM #606596], FKTN [OMIM

#607440], LMNA [OMIM #150330],

MYOT [OMIM #604103], SGCA [OMIM

#600119], SGCB [OMIM #600900],

SGCD [OMIM #601411], SGCG [OMIM

#608896], TCAP [OMIM #604488],

TRIM32 [OMIM #602290])




Workbench, GATK

Progressive Muskeldystrophien (Typ

Duchenne/Typ Becker) (DMD [OMIM

#300377])




Workbench, GATK





Progressive myoklonische Epilepsien

(CERS1 [OMIM #606919], CSTB

[OMIM #601145], EPM2A [OMIM

#607566], GOSR2 [OMIM #604027],

KCNC1 [OMIM #176258], KCTD7

[OMIM #611725], LMNB2 [OMIM

#150341], NHLRC1 [OMIM #608072],

PRDM8 [OMIM #616639], PRICKLE1

[OMIM #608500], PRICKLE2 [OMIM

#608501], SCARB2 [OMIM #602257])




Workbench, GATK

Pulmonale arterielle Hypertonie (PAH)

(ACVRL1 [OMIM #601284], BMPR1B

[OMIM #603248], BMPR2 [OMIM

#600799], CAV1 [OMIM #601047],

EIF2AK4 [OMIM #609280], ENG


#605120], KCNA5 [OMIM #176267],

KCNK3 [OMIM #603220], NOTCH3


#601595], SMAD4 [OMIM #600993],

SMAD9 [OMIM #603295], TBX4

[OMIM #601719])




Workbench, GATK


(ACVRL1 [OMIM #601284], BMPR1B

[OMIM #603248], BMPR2 [OMIM

#600799], CAV1 [OMIM #601047],

EIF2AK4 [OMIM #609280], ENG


#605120], KCNA5 [OMIM #176267],

KCNK3 [OMIM #603220], SMAD1


#600993], SMAD9 [OMIM #603295],

TBX4 [OMIM #601719])




Workbench, GATK


(NOTCH3 [OMIM #600276])




Workbench, GATK





RASopathien (BRAF [OMIM #164757],

CBL [OMIM #165360], HRAS [OMIM

#190020], KRAS [OMIM #190070],



#601263], NF1 [OMIM #613113],



#176876], RAF1 [OMIM #164760],


#609591], RRAS [OMIM #165090],



#601247], SPRED1 [OMIM #609291])




Workbench, GATK

RASopathien (BRAF [OMIM #164757],

CBL [OMIM #165360], HRAS [OMIM

#190020], KRAS [OMIM #190070],



#601263], NF1 [OMIM #613113],



#176876], RAF1 [OMIM #164760],


#609591], RRAS [OMIM #165090],



#601247], SPRED1 [OMIM #609291])




Workbench, GATK,

Gendosisbestimmung

RASopathien (HRAS [OMIM #190020],

NF1 [OMIM #613113], SPRED1 [OMIM

#609291])




Workbench, GATK

RASopathien (HRAS [OMIM #190020],

NF1 [OMIM #613113], SPRED1 [OMIM

#609291])




Workbench, GATK,

Gendosisbestimmung





RASopathien mit Herzfehlern (BRAF


#165360], HRAS [OMIM #190020],



#601263], NRAS [OMIM #164790],



#164760], RASA2 [OMIM #601589],

RIT1 [OMIM #609591], SOS1 [OMIM

#182530], SOS2 [OMIM #601247])




Workbench, GATK



#165360], HRAS [OMIM #190020],



#601263], NRAS [OMIM #164790],



#164760], RASA2 [OMIM #601589],


#182530], SOS2 [OMIM #601247])




Workbench, GATK,

Gendosisbestimmung



#190020], KRAS [OMIM #190070],

MAP2K1 [OMIM #176872], MAP2K2


#176876], RAF1 [OMIM #164760],


#182530])




Workbench, GATK



#190020], KRAS [OMIM #190070],

MAP2K1 [OMIM #176872], MAP2K2


#176876], RAF1 [OMIM #164760],


#182530])




Workbench, GATK,

Gendosisbestimmung

RASopathien mit Herzfehlern (CBL


#164790], PPP1CB [OMIM #600590],

RASA2 [OMIM #601589], SOS2 [OMIM

#601247])




Workbench, GATK





RASopathien mit Herzfehlern (CBL


#164790], PPP1CB [OMIM #600590],

RASA2 [OMIM #601589], SOS2 [OMIM

#601247])




Workbench, GATK,

Gendosisbestimmung

Renale tubuläre Dysgenesie (ACE

[OMIM #106180], AGT [OMIM

#106150], AGTR1 [OMIM #106165],

REN [OMIM #179820])




Workbench, GATK

Retinitis pigmentosa (ABCA4 [OMIM

#601691], ARL6 [OMIM #608845],

BEST1 [OMIM #607854], C2orf71


#614477], CA4 [OMIM #114760],

CDHR1 [OMIM #609502], CERKL

[OMIM #608381], CLRN1 [OMIM

#606397], CNGA1 [OMIM #123825],

CNGB1 [OMIM #600724], CRB1

[OMIM #604210], DHDDS [OMIM

#608172], EYS [OMIM #612424],

FAM161A [OMIM #613596], FSCN2

[OMIM #607643], GUCA1B [OMIM

#602275], IDH3B [OMIM #604526],

IFT172 [OMIM #607386], IMPDH1

[OMIM #146690], IMPG2 [OMIM

#607056], KIZ [OMIM #615757],

KLHL7 [OMIM #611119], MAK [OMIM

#154235], MERTK [OMIM #604705],

NEK2 [OMIM #604043], NR2E3

[OMIM #604485], NRL [OMIM

#162080], OFD1 [OMIM #300170],

PDE6A [OMIM #180071], PDE6B

[OMIM #180072], PDE6G [OMIM

#180073], PRCD [OMIM #610598],

PROM1 [OMIM #604365], PRPF3

[OMIM #607301], PRPF31 [OMIM

#606419], PRPF4 [OMIM #607795],

PRPF6 [OMIM #613979],




Workbench, GATK






PRPF8 [OMIM #607300], PRPH2

[OMIM #179605], RBP3 [OMIM

#180290], RGR [OMIM #600342], RHO

[OMIM #180380], ROM1 [OMIM

#180721], RP1 [OMIM #603937], RP2

[OMIM #300757], RP9 [OMIM

#607331], RPE65 [OMIM #180069],

RPGR [OMIM #312610], SAG [OMIM

#181031], SEMA4A [OMIM #607292],

SLC7A14 [OMIM #615720], SNRNP200

[OMIM #601664], TOPORS [OMIM

#609507], TTC8 [OMIM #608132],

TULP1 [OMIM #602280], USH2A

[OMIM #608400], ZNF408 [OMIM

#616454], ZNF513 [OMIM #613598])

Retinitis pigmentosa (EYS [OMIM

#612424], PRPF31 [OMIM #606419],

PRPH2 [OMIM #179605], RHO [OMIM

#180380], RP1 [OMIM #603937], RP2

[OMIM #300757], RPGR [OMIM

#312610])




Workbench, GATK

Rett-Syndrom und ähnliche

Erkrankungen (ALDH5A1 [OMIM

#610045], ARX [OMIM #300382],

BDNF [OMIM #113505], CDKL5

[OMIM #300203], CNTNAP2 [OMIM

#604569], FOXG1 [OMIM #164874],

FOXP2 [OMIM #605317], IQSEC2


#176262], KCNQ2 [OMIM #602235],

MECP2 [OMIM #300005], MEF2C

[OMIM #600662], NRXN1 [OMIM

#600565], NTNG1 [OMIM #608818],

PLP1 [OMIM #300401], SCN2A [OMIM

#182390], SCN8A [OMIM #600702],

SHANK3 [OMIM #606230], STXBP1


#602272], UBE3A [OMIM #601623],

ZEB2 [OMIM #605802])




Workbench, GATK







Erkrankungen (CDKL5 [OMIM

#300203], FOXG1 [OMIM #164874],

IQSEC2 [OMIM #300522], MECP2

[OMIM #300005], MEF2C [OMIM

#600662], NTNG1 [OMIM #608818],

STXBP1 [OMIM #602926], TCF4

[OMIM #602272], UBE3A [OMIM

#601623], ZEB2 [OMIM #605802])




Workbench, GATK


Erkrankungen (ALDH5A1 [OMIM

#610045], ARX [OMIM #300382],

BDNF [OMIM #113505], CNTNAP2


#605317], KCNA2 [OMIM #176262],

KCNQ2 [OMIM #602235], NRXN1

[OMIM #600565], PLP1 [OMIM

#300401], SCN2A [OMIM #182390],

SCN8A [OMIM #600702], SHANK3

[OMIM #606230])




Workbench, GATK

Robinow-Syndrom (DVL1 [OMIM

#601365], DVL3 [OMIM #601368],

ROR2 [OMIM #602337], WNT5A

[OMIM #164975])




Workbench, GATK

Rubinstein-Taybi-Syndrom (CREBBP

[OMIM #600140], EP300 [OMIM

#602700])




Workbench, GATK

Schwere kombinierte Immundefekte

(T-B-) (ADA [OMIM #608958], AK2

[OMIM #103020], DCLRE1C [OMIM

#605988], LIG4 [OMIM #601837],

NHEJ1 [OMIM #611290], PRKDC


#179615], RAG2 [OMIM #179616])




Workbench, GATK

Schwere kombinierte Immundefekte

(T-B+) (CD247 [OMIM #186780], CD3D

[OMIM #186790], CD3E [OMIM

#186830], CORO1A [OMIM #605000],

FOXN1 [OMIM #600838], IL2RG


#146661], xK3 [OMIM #600173],

PTPRC [OMIM #151460])




Workbench, GATK





Senior-Løken-Syndrom (CEP290

[OMIM #610142], INVS [OMIM

#243305], IQCB1 [OMIM #609237],



#607215], SDCCAG8 [OMIM #613524],

TRAF3IP1 [OMIM #607380], WDR19

[OMIM #608151])




Workbench, GATK

Senior-Løken-Syndrom (CEP290

[OMIM #610142], INVS [OMIM

#243305], IQCB1 [OMIM #609237],



#607215], SDCCAG8 [OMIM

#613524])




Workbench, GATK

Senior-Løken-Syndrom (TRAF3IP1


#608151])




Workbench, GATK

Spastische Ataxien (ABHD12 [OMIM

#613599], AFG3L2 [OMIM #604581],

CAPN1 [OMIM #114220], GBA2

[OMIM #609471], KIF1C [OMIM

#603060], MARS2 [OMIM #609728],

MTPAP [OMIM #613669], SACS

[OMIM #604490], SPG7 [OMIM

#602783], VAMP1 [OMIM #185880])




Workbench, GATK

Spastische Ataxien (AFG3L2 [OMIM

#604581], KIF1C [OMIM #603060],

MTPAP [OMIM #613669], SACS

[OMIM #604490], SPG7 [OMIM

#602783], VAMP1 [OMIM #185880])




Workbench, GATK

Spastische Ataxien (GBA2 [OMIM

#609471], MARS2 [OMIM #609728])




Workbench, GATK





Spinale Muskelatrophien (ASAH1


#300011], BICD2 [OMIM #609797],

BSCL2 [OMIM #606158], CHCHD10

[OMIM #615903], DNAJB2 [OMIM

#604139], DYNC1H1 [OMIM

#600112], EXOSC3 [OMIM #606489],

EXOSC8 [OMIM #606019], FBXO38

[OMIM #608533], GARS [OMIM

#600287], HSPB8 [OMIM #608014],

IGHMBP2 [OMIM #600502], PLEKHG5

[OMIM #611101], REEP1 [OMIM

#609139], SLC5A7 [OMIM #608761],

TFG [OMIM #602498], TRPV4 [OMIM

#605427], UBA1 [OMIM #314370],

VAPB [OMIM #605704], VRK1 [OMIM

#602168])




Workbench, GATK

Spinale Muskelatrophien

(neonatal/frühmanifestierend) und

Pontocerebelläre Hypolasie (ASAH1


#300011], EXOSC3 [OMIM #606489],

EXOSC8 [OMIM #606019], IGHMBP2

[OMIM #600502], PLEKHG5 [OMIM

#611101], TRPV4 [OMIM #605427],

UBA1 [OMIM #314370], VRK1 [OMIM

#602168])




Workbench, GATK

Spinale Muskelatrophien

(spätmanifestierend) (ATP7A [OMIM

#300011], BICD2 [OMIM #609797],

BSCL2 [OMIM #606158], CHCHD10

[OMIM #615903], DNAJB2 [OMIM

#604139], FBXO38 [OMIM #608533],

GARS [OMIM #600287], HSPB8

[OMIM #608014], REEP1 [OMIM

#609139], SLC5A7 [OMIM #608761],

TFG [OMIM #602498], TRPV4 [OMIM

#605427], VAPB [OMIM #605704])




Workbench, GATK





Sprachentwicklungsstörungen

(CNTNAP2 [OMIM #604569], DYRK1A


#605515], FOXP2 [OMIM #605317],

GALT [OMIM #606999], GRIN2A

[OMIM #138253], KANSL1 [OMIM

#612452], MBD5 [OMIM #611472],

NRXN1 [OMIM #600565], PCDH11X

[OMIM #300246], RAI1 [OMIM

#607642], SETBP1 [OMIM #611060],

SHANK3 [OMIM #606230], SOX5

[OMIM #604975], TM4SF20 [OMIM

#615404])




Workbench, GATK


(CNTNAP2 [OMIM #604569], FOXP1


#605317], KANSL1 [OMIM #612452],

NRXN1 [OMIM #600565], SETBP1


#604975], TM4SF20 [OMIM #615404])




Workbench, GATK


(DYRK1A [OMIM #600855], GALT


#611472], PCDH11X [OMIM #300246],

RAI1 [OMIM #607642], SHANK3

[OMIM #606230])




Workbench, GATK

Stickler-Syndrom (Augenerkrankung)

(COL11A1 [OMIM #120280], COL2A1


#120210], COL9A2 [OMIM #120260])




Workbench, GATK

Stickler-Syndrom (Augenerkrankung)

(COL11A1 [OMIM #120280], COL2A1


#120210], COL9A2 [OMIM #120260])




Workbench, GATK,

Gendosisbestimmung

Stickler-Syndrom

(Bindegewebserkrankung) (COL11A1


#120290], COL2A1 [OMIM #120140],


[OMIM #120260])




Workbench, GATK





Stickler-Syndrom

(Bindegewebserkrankung) (COL11A1


#120290], COL2A1 [OMIM #120140],


[OMIM #120260])




Workbench, GATK,

Gendosisbestimmung

Stoffwechselerkrankungen (ABCA1

[OMIM #600046], ABCC8 [OMIM

#600509], AGXT [OMIM #604285],

ALAD [OMIM #125270], ALAS2 [OMIM

#301300], ALG1 [OMIM #605907],

ALG11 [OMIM #613666], ALG12


#300776], ALG2 [OMIM #607905],


#604566], ALG8 [OMIM #608103],

ALG9 [OMIM #606941], ANGPTL3


#107680], APOA5 [OMIM #606368],



#107741], APPL1 [OMIM #604299],

ARG1 [OMIM #608313], ARSB [OMIM

#611542], ASL [OMIM #608310], ASS1


#137060], BLK [OMIM #191305],

CACNA1S [OMIM #114208], CAD


#613734], CEL [OMIM #114840],


#606976], COG5 [OMIM #606821],


#606978], COG8 [OMIM #606979],

CPOX [OMIM #612732], CPS1 [OMIM

#608307],




Workbench, GATK

DDOST [OMIM #602202], DOLK

[OMIM #610746], DPAGT1 [OMIM

#191350], DPM1 [OMIM #603503],

DPM2 [OMIM #603564], DPM3

[OMIM #605951], FECH [OMIM

#612386], GALNS [OMIM #612222],

GCK [OMIM #138079], GLB1 [OMIM

#611458], GPIHBP1 [OMIM #612757],

GRHPR [OMIM #604296],






GUSB [OMIM #611499], HGSNAT

[OMIM #610453], HMBS [OMIM

#609806], HNF1A [OMIM #142410],

HNF1B [OMIM #189907], HNF4A

[OMIM #600281], HOGA1 [OMIM

#613597], HYAL1 [OMIM #607071],

IDS [OMIM #300823], IDUA [OMIM

#252800], INS [OMIM #176730],

KCNJ11 [OMIM #600937], KLF11

[OMIM #603301], LCAT [OMIM

#606967], LDLR [OMIM #606945],

LDLRAP1 [OMIM #605747], LIPC

[OMIM #151670], LPL [OMIM

#609708], MGAT2 [OMIM #602616],



#154550], MTTP [OMIM #157147],

NAGLU [OMIM #609701], NAGS

[OMIM #608300], NEUROD1 [OMIM

#601724], NGLY1 [OMIM #610661],

OTC [OMIM #300461], PAX4 [OMIM

#167413], PCSK9 [OMIM #607786],

PDX1 [OMIM #600733], PGM1 [OMIM

#171900], PMM2 [OMIM #601785],

PPOX [OMIM #600923], RFT1 [OMIM

#611908], RYR1 [OMIM #180901],

SGSH [OMIM #605270], SLC25A13


#603861], SLC35A1 [OMIM #605634],

SLC35A2 [OMIM #314375], SLC35C1


#608732], SRD5A3 [OMIM #611715],

SSR4 [OMIM #300090], STT3A [OMIM

#601134], STT3B [OMIM #608605],

TMEM165 [OMIM #614726],


[OMIM #601385], UROD [OMIM

#613521], UROS [OMIM #606938])






Stoffwechselmyopathien (Defekte der

mitochondrialen ß-Oxidation und

Mitochondriale Deletionssyndrome

(MTDPS) und Mypathie) (ACADVL

[OMIM #609575], AGK [OMIM

#610345], ALDOA [OMIM #103850],

C10orf2 [OMIM #606075], CPT2

[OMIM #600650], DGUOK [OMIM

#601465], ETFA [OMIM #608053],

ETFB [OMIM #130410], ETFDH [OMIM

#231675], FBXL4 [OMIM #605654],

GAA [OMIM #606800], HADHA

[OMIM #600890], HADHB [OMIM

#143450], LDHA [OMIM #150000],

LPIN1 [OMIM #605518], MGME1

[OMIM #615076], MPV17 [OMIM

#137960], PFKM [OMIM #610681],

PGAM2 [OMIM #612931], PHKA1

[OMIM #311870], PHKB [OMIM

#172490], POLG [OMIM #174763],

PYGM [OMIM #608455], RRM2B


#613698], SLC25A4 [OMIM #103220],

SUCLA2 [OMIM #603921], SUCLG1

[OMIM #611224], TK2 [OMIM

#188250], TYMP [OMIM #131222])




Workbench, GATK

Stoffwechselmyopathien (Defekte der

mitochondrialen ß-Oxidation und

Mitochondriale Deletionssyndrome

(MTDPS) und Mypathie) (ACADVL


#610345], C10orf2 [OMIM #606075],

DGUOK [OMIM #601465], ETFA

[OMIM #608053], ETFB [OMIM

#130410], ETFDH [OMIM #231675],

HADHA [OMIM #600890], HADHB


#174763], RRM2B [OMIM #604712],

SUCLA2 [OMIM #603921], SUCLG1

[OMIM #611224], TK2 [OMIM

#188250], TYMP [OMIM #131222])




Workbench, GATK





Stoffwechselmyopathien (ALDOA

[OMIM #103850], CPT2 [OMIM

#600650], FBXL4 [OMIM #605654],

GAA [OMIM #606800], LDHA [OMIM

#150000], LPIN1 [OMIM #605518],

MGME1 [OMIM #615076], MPV17

[OMIM #137960], PFKM [OMIM

#610681], PGAM2 [OMIM #612931],

PHKA1 [OMIM #311870], PHKB

[OMIM #172490], PYGM [OMIM

#608455], SLC25A20 [OMIM

#613698], SLC25A4 [OMIM #103220])




Workbench, GATK

Stoffwechselmyopathien

(Glycogenosen mit muskulärer

Symptomatik und

Carnitinstoffwechselstörungen)

(ACADVL [OMIM #609575], AGK

[OMIM #610345], ALDOA [OMIM

#103850], C10orf2 [OMIM #606075],

CPT2 [OMIM #600650], DGUOK

[OMIM #601465], ETFA [OMIM

#608053], ETFB [OMIM #130410],

ETFDH [OMIM #231675], FBXL4

[OMIM #605654], GAA [OMIM

#606800], HADHA [OMIM #600890],

HADHB [OMIM #143450], LAMA2

[OMIM #156225], LDHA [OMIM

#150000], LPIN1 [OMIM #605518],

MGME1 [OMIM #615076], MPV17

[OMIM #137960], PFKM [OMIM

#610681], PGAM2 [OMIM #612931],

PHKA1 [OMIM #311870], PHKB


#174763], PYGM [OMIM #608455],

RRM2B [OMIM #604712], SLC25A20


#103220], SUCLA2 [OMIM #603921],

SUCLG1 [OMIM #611224], TK2 [OMIM

#188250], TYMP [OMIM #131222])




Workbench, GATK





Stoffwechselmyopathien

(Glycogenosen mit muskulärer

Symptomatik und

Carnitinstoffwechselstörungen)

(ALDOA [OMIM #103850], CPT2

[OMIM #600650], GAA [OMIM

#606800], LDHA [OMIM #150000],

PFKM [OMIM #610681], PGAM2

[OMIM #612931], PHKA1 [OMIM

#311870], PHKB [OMIM #172490],

PYGM [OMIM #608455], SLC25A20

[OMIM #613698])




Workbench, GATK

Stoffwechselmyopathien (ACADVL


#610345], C10orf2 [OMIM #606075],

DGUOK [OMIM #601465], ETFA

[OMIM #608053], ETFB [OMIM

#130410], ETFDH [OMIM #231675],

FBXL4 [OMIM #605654], HADHA

[OMIM #600890], HADHB [OMIM

#143450], LAMA2 [OMIM #156225],

LPIN1 [OMIM #605518], MGME1

[OMIM #615076], MPV17 [OMIM

#137960], POLG [OMIM #174763],

RRM2B [OMIM #604712], SLC25A4

[OMIM #103220], SUCLA2 [OMIM

#603921], SUCLG1 [OMIM #611224],

TK2 [OMIM #188250], TYMP [OMIM

#131222])




Workbench, GATK





Syndromale Herzfehler (ADAMTS10


#610911], CHD7 [OMIM #608892],

CREBBP [OMIM #600140], DOCK6

[OMIM #614194], EHMT1 [OMIM

#607001], EOGT [OMIM #614789],

EP300 [OMIM #602700], EVC [OMIM

#604831], EVC2 [OMIM #607261],


#612570], FLNA [OMIM #300017],

FOXC1 [OMIM #601090], GPC3

[OMIM #300037], xG1 [OMIM

#601920], KDM6A [OMIM #300128],

KMT2D [OMIM #602113], MED12

[OMIM #300188], MGP [OMIM

#154870], MYH11 [OMIM #160745],

NIPBL [OMIM #608667], NOTCH1


#600275], NSD1 [OMIM #606681],

PITX2 [OMIM #601542], RBM10


#147183], SALL1 [OMIM #602218],

SALL4 [OMIM #607343], SEMA3E


#601621], TBX5 [OMIM #601620],

TFAP2B [OMIM #601601], TGFBR1


#190182], ZEB2 [OMIM #605802])




Workbench, GATK

Syndromale Herzfehler (EVC [OMIM

#604831], EVC2 [OMIM #607261],

xG1 [OMIM #601920], NOTCH2

[OMIM #600275], SALL4 [OMIM

#607343], TBX3 [OMIM #601621],

TBX5 [OMIM #601620])




Workbench, GATK





Syndromale Herzfehler (ADAMTS10


#610911], CHD7 [OMIM #608892],

CREBBP [OMIM #600140], DOCK6

[OMIM #614194], EHMT1 [OMIM

#607001], EOGT [OMIM #614789],

EP300 [OMIM #602700], FBN1 [OMIM

#134797], FBN2 [OMIM #612570],

FLNA [OMIM #300017], FOXC1 [OMIM

#601090], GPC3 [OMIM #300037],

KDM6A [OMIM #300128], KMT2D


#300188], MGP [OMIM #154870],

MYH11 [OMIM #160745], NIPBL


#190198], NSD1 [OMIM #606681],

PITX2 [OMIM #601542], RBM10


#147183], SALL1 [OMIM #602218],

SEMA3E [OMIM #608166], TFAP2B


#190181], TGFBR2 [OMIM #190182],

ZEB2 [OMIM #605802])




Workbench, GATK





Taubheit (ABHD12 [OMIM #613599],

ACTG1 [OMIM #102560], ADCY1

[OMIM #103072], ADGRV1 [OMIM

#602851], ATP6V1B1 [OMIM

#192132], BDP1 [OMIM #607012],

BSND [OMIM #606412], CABP2


#611051], CDC14A [OMIM #603504],

CDH23 [OMIM #605516], CEACAM16

[OMIM #614591], CIB2 [OMIM

#605564], CLDN14 [OMIM #605608],

CLIC5 [OMIM #607293], CLPP [OMIM

#601119], CLRN1 [OMIM #606397],

COCH [OMIM #603196], COL11A2


#303631], CRYM [OMIM #123740],

DCDC2 [OMIM #605755], DFNA5

[OMIM #608798], DFNB59 [OMIM

#610219], DIABLO [OMIM #605219],

DIAPH1 [OMIM #602121], DIAPH3

[OMIM #614567], DSPP [OMIM

#125485], ELMOD3 [OMIM #615427],

EPS8 [OMIM #600206], EPS8L2

[OMIM #614988], ESPN [OMIM

#606351], ESRRB [OMIM #602167],

EYA1 [OMIM #601653], EYA4 [OMIM

#603550], FAM65B [OMIM #611410],

FOXI1 [OMIM #601093],




Workbench, GATK

GIPC3 [OMIM #608792], GJB2 [OMIM

#121011], GJB3 [OMIM #603324],

GJB6 [OMIM #604418], GPSM2

[OMIM #609245], GRHL2 [OMIM

#608576], GRXCR1 [OMIM #613283],

GRXCR2 [OMIM #615762], HARS

[OMIM #142810], HGF [OMIM

#142409], HOMER2 [OMIM #604799],

ILDR1 [OMIM #609739], KARS [OMIM

#601421], KCNE1 [OMIM

#176261],KCNJ10 [OMIM #602208],

KCNQ1 [OMIM #607542], KCNQ4

[OMIM #603537], KITLG [OMIM

#184745], LHFPL5 [OMIM #609427],

LOXHD1 [OMIM #613072],






LRTOMT [OMIM #612414],

MARVELD2 [OMIM #610572], MET

[OMIM #164860], MIR182 [OMIM

#611607], MIR183 [OMIM #611608],

MIR96 [OMIM #611606], MSRB3

[OMIM #613719], MT-ATP6 [OMIM

#516060], MT-ATP8 [OMIM #516070],

MT-CO2 [OMIM #516040], MT-CO3

[OMIM #516050], MT-COI [OMIM

#516030], MT-CYB [OMIM #516020],

MT-L2 [OMIM #590055], MT-ND1


#516001], MT-ND3 [OMIM #516002],

MT-ND4 [OMIM #516003], MT-ND4L


#516005], MT-ND6 [OMIM #516006],

MT-RNR1 [OMIM #180450], MT-RNR2

[OMIM #180451], MT-TA [OMIM

#590000], MT-TD [OMIM #590015],

MT-TE [OMIM #590025], MT-TF

[OMIM #590070], MT-TG [OMIM

#590035], MT-TH [OMIM #590040],

MT-TI [OMIM #590045], MT-TK

[OMIM #590060], MT-TL1 [OMIM

#590050], MT-TM [OMIM #590065],

MT-TN [OMIM #590010], MT-TP

[OMIM #590075], MT-TQ [OMIM

#590030], MT-TR [OMIM #590005],

MT-TS1 [OMIM #590080], MT-TS2

[OMIM #590085], MT-TT [OMIM

#590090], MT-TV [OMIM #590105],

MT-TV [OMIM #590020], MT-TW

[OMIM #590095], MT-TY [OMIM

#590100], MYH14 [OMIM #608568],







MYH9 [OMIM #160775], MYO15A

[OMIM #602666], MYO1A [OMIM

#601478], MYO3A [OMIM #606808],

MYO6 [OMIM #600970], MYO7A

[OMIM #276903], NARS2 [OMIM

#612803], OSBPL2 [OMIM #606731],

OTOA [OMIM #607038], OTOF [OMIM

#603681], OTOG [OMIM #604487],

OTOGL [OMIM #614925],

P2RX2 [OMIM #600844], PCDH15


#612971], PNPT1 [OMIM #610316],

POU3F4 [OMIM #300039], POU4F3

[OMIM #602460], PRPS1 [OMIM

#311850], PTPRQ [OMIM #603317],

RDX [OMIM #179410], S1PR2 [OMIM

#605111], SERPINB6 [OMIM

#173321], SIX1 [OMIM #601205], SIX5


#607557], SLC26A4 [OMIM #605646],

SLC26A5 [OMIM #604943], SLITRK6

[OMIM #609681], SMPX [OMIM

#300226], STRC [OMIM #606440],

SYNE4 [OMIM #615535], TBC1D24

[OMIM #613577], TECTA [OMIM

#602574], TJP2 [OMIM #607709],

TMC1 [OMIM #606706], TMEM132E

[OMIM #616178], TMIE [OMIM

#607237], TMPRSS3 [OMIM #605511],

TNC [OMIM #187380], TPRN [OMIM

#613354], TRIOBP [OMIM #609761],

TSPEAR [OMIM #612920], USH1C

[OMIM #605242], USH1G [OMIM

#607696], USH2A [OMIM #608400],

WFS1 [OMIM #606201], WHRN

[OMIM #607928])






Taubheit autosomal-dominant (AD)

(ACTG1 [OMIM #102560], CCDC50

[OMIM #611051], CEACAM16 [OMIM

#614591], COCH [OMIM #603196],


[OMIM #303631], CRYM [OMIM

#123740], DFNA5 [OMIM #608798],

DIABLO [OMIM #605219], DIAPH1

[OMIM #602121], DIAPH3 [OMIM

#614567], DSPP [OMIM #125485],

EYA4 [OMIM #603550], GJB2 [OMIM

#121011], GJB3 [OMIM #603324],

GJB6 [OMIM #604418], GRHL2 [OMIM

#608576], HOMER2 [OMIM #604799],

KCNQ4 [OMIM #603537], KITLG

[OMIM #184745], MIR182 [OMIM

#611607], MIR183 [OMIM #611608],

MIR96 [OMIM #611606], MYH14


#160775], MYO1A [OMIM #601478],

MYO6 [OMIM #600970], MYO7A

[OMIM #276903], OSBPL2 [OMIM

#606731], P2RX2 [OMIM #600844],

POU3F4 [OMIM #300039], POU4F3


#311850], SIX1 [OMIM #601205],

SLC17A8 [OMIM #607557], SMPX

[OMIM #300226], TBC1D24 [OMIM

#613577], TECTA [OMIM #602574],




Workbench, GATK

TJP2 [OMIM #607709], TMC1 [OMIM

#606706], TNC [OMIM #187380],

WFS1 [OMIM #606201])


(ACTG1 [OMIM #102560], COCH


#120290], DFNA5 [OMIM #608798],

DIAPH1 [OMIM #602121], KCNQ4


#608568], WFS1 [OMIM #606201])




Workbench, GATK






(CCDC50 [OMIM #611051],

CEACAM16 [OMIM #614591], COL4A6

[OMIM #303631], CRYM [OMIM

#123740], DIABLO [OMIM #605219],

DIAPH3 [OMIM #614567], DSPP

[OMIM #125485], EYA4 [OMIM

#603550], GJB2 [OMIM #121011],

GJB3 [OMIM #603324], GJB6 [OMIM

#604418], GRHL2 [OMIM #608576],

HOMER2 [OMIM #604799], MIR182

[OMIM #611607], MIR183 [OMIM

#611608], MIR96 [OMIM #611606],

MYH9 [OMIM #160775], MYO1A

[OMIM #601478], MYO6 [OMIM

#600970], MYO7A [OMIM #276903],

OSBPL2 [OMIM #606731], P2RX2

[OMIM #600844], POU3F4 [OMIM

#300039], POU4F3 [OMIM #602460],

PRPS1 [OMIM #311850], SIX1 [OMIM

#601205], SLC17A8 [OMIM #607557],

SMPX [OMIM #300226], TBC1D24

[OMIM #613577], TECTA [OMIM

#602574], TJP2 [OMIM #607709],

TMC1 [OMIM #606706], TNC [OMIM

#187380])




Workbench, GATK





Taubheit autosomal-rezessiv (AR)

(ABHD12 [OMIM #613599], ADCY1

[OMIM #103072], BDP1 [OMIM

#607012], BSND [OMIM #606412],

CABP2 [OMIM #607314], CDC14A


#605516], CIB2 [OMIM #605564],

CLDN14 [OMIM #605608], CLIC5


#120290], COL4A6 [OMIM #303631],

DCDC2 [OMIM #605755], DFNB59

[OMIM #610219], ELMOD3 [OMIM

#615427], EPS8 [OMIM #600206],

EPS8L2 [OMIM #614988], ESPN

[OMIM #606351], ESRRB [OMIM

#602167], FAM65B [OMIM #611410],

FOXI1 [OMIM #601093], GIPC3


#121011], GJB3 [OMIM #603324],


[OMIM #609245], GRXCR1 [OMIM

#613283], GRXCR2 [OMIM #615762],

HGF [OMIM #142409], ILDR1 [OMIM

#609739], KARS [OMIM #601421],

KCNE1 [OMIM #176261], KCNQ1

[OMIM #607542], LHFPL5 [OMIM

#609427], LOXHD1 [OMIM #613072],

LRTOMT [OMIM #612414],




Workbench, GATK


[OMIM #164860], MSRB3 [OMIM

#613719], MYO15A [OMIM #602666],

MYO3A [OMIM #606808], MYO6


#276903], NARS2 [OMIM #612803],

OTOA [OMIM #607038], OTOF [OMIM

#603681], OTOG [OMIM #604487],






OTOGL [OMIM #614925], PCDH15

[OMIM #605514], PNPT1 [OMIM

#610316], POU3F4 [OMIM #300039],

PRPS1 [OMIM #311850], PTPRQ

[OMIM #603317], RDX [OMIM

#179410], S1PR2 [OMIM #605111],

SERPINB6 [OMIM #173321], SLC26A4


#604943], SLITRK6 [OMIM #609681],

SMPX [OMIM #300226], STRC [OMIM

#606440], SYNE4 [OMIM #615535],

TBC1D24 [OMIM #613577], TECTA

[OMIM #602574], TMC1 [OMIM

#606706], TMEM132E [OMIM

#616178], TMIE [OMIM #607237],

TMPRSS3 [OMIM #605511], TPRN

[OMIM #613354], TRIOBP [OMIM

#609761], TSPEAR [OMIM #612920],

USH1C [OMIM #605242], WHRN

[OMIM #607928])

Taubheit autosomal-rezessiv (AR) 1

(CDH23 [OMIM #605516], MYO7A


#605514], SLC26A4 [OMIM #605646])




Workbench, GATK

Taubheit autosomal-rezessiv (AR) 2

(ILDR1 [OMIM #609739], MYO15A

[OMIM #602666], OTOA [OMIM

#607038], STRC [OMIM #606440],

TMC1 [OMIM #606706], TMPRSS3

[OMIM #605511])




Workbench, GATK






Taubheit autosomal-rezessiv (AR)

(ABHD12 [OMIM #613599], ADCY1

[OMIM #103072], BDP1 [OMIM

#607012], BSND [OMIM #606412],

CABP2 [OMIM #607314], CDC14A

[OMIM #603504], CIB2 [OMIM

#605564], CLDN14 [OMIM #605608],

CLIC5 [OMIM #607293], COL11A2


#303631], DCDC2 [OMIM #605755],

DFNB59 [OMIM #610219], ELMOD3

[OMIM #615427], EPS8 [OMIM

#600206], EPS8L2 [OMIM #614988],

ESPN [OMIM #606351], ESRRB [OMIM

#602167], FAM65B [OMIM #611410],

FOXI1 [OMIM #601093], GIPC3


#121011], GJB3 [OMIM #603324],


[OMIM #609245], GRXCR1 [OMIM

#613283], GRXCR2 [OMIM #615762],

HGF [OMIM #142409], KARS [OMIM

#601421], KCNE1 [OMIM #176261],

KCNQ1 [OMIM #607542], LHFPL5

[OMIM #609427], LOXHD1 [OMIM

#613072], LRTOMT [OMIM #612414],


[OMIM #164860], MSRB3 [OMIM

#613719], MYO3A [OMIM #606808],

MYO6 [OMIM #600970],




Workbench, GATK






NARS2 [OMIM #612803], OTOF

[OMIM #603681], OTOG [OMIM

#604487], OTOGL [OMIM #614925],

PNPT1 [OMIM #610316], POU3F4


#311850], PTPRQ [OMIM #603317],

RDX [OMIM #179410], S1PR2 [OMIM

#605111], SERPINB6 [OMIM

#173321], SLC26A5 [OMIM #604943],

SLITRK6 [OMIM #609681], SMPX

[OMIM #300226], SYNE4 [OMIM

#615535], TBC1D24 [OMIM #613577],

TECTA [OMIM #602574], TMEM132E

[OMIM #616178], TMIE [OMIM

#607237], TPRN [OMIM #613354],

TRIOBP [OMIM #609761], TSPEAR

[OMIM #612920], USH1C [OMIM

#605242], WHRN [OMIM #607928])

Taubheit syndromal (ADGRV1 [OMIM

#602851], ATP6V1B1 [OMIM

#192132], BSND [OMIM #606412],

CDH23 [OMIM #605516], CIB2 [OMIM

#605564], CLPP [OMIM #601119],

CLRN1 [OMIM #606397], EYA1 [OMIM

#601653], FOXI1 [OMIM #601093],

GPSM2 [OMIM #609245], HARS


#176261], KCNJ10 [OMIM #602208],

KCNQ1 [OMIM #607542], MYH9


#276903], PCDH15 [OMIM #605514],

PDZD7 [OMIM #612971], SIX5 [OMIM

#600963], SLC26A4 [OMIM #605646],

USH1C [OMIM #605242], USH1G

[OMIM #607696], USH2A [OMIM

#608400], WFS1 [OMIM #606201],

WHRN [OMIM #607928])




Workbench, GATK






Taubheit, mitochondrial (MT-ATP6

[OMIM #516060], MT-ATP8 [OMIM

#516070], MT-CO2 [OMIM #516040],

MT-CO3 [OMIM #516050], MT-COI

[OMIM #516030], MT-CYB [OMIM

#516020], MT-L2 [OMIM #590055],



#516002], MT-ND4 [OMIM #516003],

MT-ND4L [OMIM #516004], MT-ND5


#516006], MT-RNR1 [OMIM

#180450], MT-RNR2 [OMIM

#180451], MT-TA [OMIM #590000],

MT-TD [OMIM #590015], MT-TE

[OMIM #590025], MT-TF [OMIM

#590070], MT-TG [OMIM #590035],

MT-TH [OMIM #590040], MT-TI

[OMIM #590045], MT-TK [OMIM

#590060], MT-TL1 [OMIM #590050],

MT-TM [OMIM #590065], MT-TN

[OMIM #590010], MT-TP [OMIM

#590075], MT-TQ [OMIM #590030],

MT-TR [OMIM #590005], MT-TS1


#590085], MT-TT [OMIM #590090],

MT-TV [OMIM #590105], MT-TV

[OMIM #590020], MT-TW [OMIM

#590095], MT-TY [OMIM #590100])




Workbench, GATK

Temporallappenepilepsie und

Frontallappenepilepsie (CHRNA2

[OMIM #118502], CHRNA4 [OMIM

#118504], CHRNB2 [OMIM #118507],

CPA6 [OMIM #609562], GAL [OMIM

#137035], KCNT1 [OMIM #608167],

LGI1 [OMIM #604619], RELN [OMIM

#600514])




Workbench, GATK





Thorakale Aortenerkrankungen

familiär, nicht-syndromal (ACTA2

[OMIM #102620], FOXE3 [OMIM

#601094], GATA5 [OMIM #611496],

LOX [OMIM #153455], MAT2A [OMIM

#601468], MFAP5 [OMIM #601103],

MYH11 [OMIM #160745], MYLK


#190198], PLOD1 [OMIM #153454],

PRKG1 [OMIM #176894], SMAD2


#602931], TGFBR1 [OMIM #190181],





Workbench, GATK

Thorakale Aortenerkrankungen,

selten, syndromal, rezessiv; Cutis laxa

(EFEMP2 [OMIM #604633], ELN


#604580], SLC2A10 [OMIM #606145])




Workbench, GATK

Thorakale Aortenerkrankungen,

seltene, syndromal (BGN [OMIM

#301870], COL1A1 [OMIM #120150],



#120190], EMILIN1 [OMIM #130660],

FBN1 [OMIM #134797], FLNA [OMIM

#300017], PLOD1 [OMIM #153454],

SMAD3 [OMIM #603109], TGFB2


#190230], TGFBR1 [OMIM #190181],





Workbench, GATK





Thorakale Aortenerweiterung mit

dem Risiko der Aortendissektion

(ACTA2 [OMIM #102620], BGN [OMIM

#301870], COL1A1 [OMIM #120150],



#120215], COL5A2 [OMIM #120190],

EFEMP2 [OMIM #604633], ELN

[OMIM #130160], EMILIN1 [OMIM

#130660], FBLN5 [OMIM #604580],


#612570], FLNA [OMIM #300017],

FOXE3 [OMIM #601094], GATA5

[OMIM #611496], LOX [OMIM

#153455], MAT2A [OMIM #601468],

MFAP5 [OMIM #601103], MYH11

[OMIM #160745], MYLK [OMIM

#600922], NOTCH1 [OMIM #190198],

PLOD1 [OMIM #153454], PRKG1

[OMIM #176894], SKI [OMIM

#164780], SLC2A10 [OMIM #606145],

SMAD2 [OMIM #601366], SMAD3


#600993], SMAD6 [OMIM #602931],

TGFB2 [OMIM #190220], TGFB3


#190181], TGFBR2 [OMIM #190182])




Workbench, GATK

Thromboseneigung/Thrombophilie

(F2 [OMIM #176930], F5 [OMIM

#612309], PROC [OMIM #612283],

PROS1 [OMIM #176880])




Workbench, GATK

Tuberöse Sklerose Complex (TSC1


#191092])




Workbench, GATK

Tuberöse Sklerose Complex (TSC1


#191092])




Workbench, GATK,

Gendosisbestimmung





Tubulinopathien / Hirnfehlbildungen

(TUBA1A [OMIM #602529], TUBA8

[OMIM #605742], TUBB [OMIM

#191130], TUBB2A [OMIM #615101],

TUBB2B [OMIM #612850], TUBB3

[OMIM #602661], TUBG1 [OMIM

#191135])




Workbench, GATK


#602851], CDH23 [OMIM #605516],


#606397], HARS [OMIM #142810],



#612971], USH1C [OMIM #605242],



#607928])




Workbench, GATK

Usher-Syndrom Typ 1 (CDH23 [OMIM

#605516], MYO7A [OMIM #276903],

PCDH15 [OMIM #605514], USH1G

[OMIM #607696])




Workbench, GATK

Usher-Syndrom Typ 1 und 2 (MYO7A

[OMIM #276903], USH2A [OMIM

#608400])




Workbench, GATK


#602851], CDH23 [OMIM #605516],


#606397], HARS [OMIM #142810],



#612971], USH1C [OMIM #605242],



#607928])




Workbench, GATK





Vorzeitige Ovarialinsuffizienz (BMP15

[OMIM #300247], DIAPH2 [OMIM

#300108], ESR1 [OMIM #133430],

FIGLA [OMIM #608697], FOXL2

[OMIM #605597], FSHR [OMIM

#136435], GDF9 [OMIM #601918],

INHA [OMIM #147380], LHCGR

[OMIM #152790], NOBOX [OMIM

#610934], NR5A1 [OMIM #184757],

SOHLH1 [OMIM #610224], SOHLH2

[OMIM #616066], STAG3 [OMIM

#608489])




Workbench, GATK

X-Gebundene Mentale Retardierung

(ACSL4 [OMIM #300157], AGTR2


#300169], ALG13 [OMIM #300776],

AMER1 [OMIM #300647], AP1S2


#300267], ARHGEF9 [OMIM #300429],

ARX [OMIM #300382], ATP6AP2


#300011], ATRX [OMIM #300032],

BCOR [OMIM #300485], BRWD3

[OMIM #300553], CASK [OMIM

#300172], CCDC22 [OMIM #300859],

CDKL5 [OMIM #300203], CLCN4

[OMIM #302910], CLIC2 [OMIM

#300138], CUL4B [OMIM #300304],

DCX [OMIM #300121], DDX3X [OMIM

#300160], DKC1 [OMIM #300126],

DLG3 [OMIM #300189], FGD1 [OMIM

#300546], FLNA [OMIM #300017],

FTSJ1 [OMIM #300499], GDI1 [OMIM

#300104], GK [OMIM #300474], GPC3

[OMIM #300037], GRIA3 [OMIM

#305915], HCCS [OMIM #300056],

HCFC1 [OMIM #300019], HDAC8

[OMIM #300269], HPRT1 [OMIM

#308000], HUWE1 [OMIM #300697],

IDS [OMIM #300823], IKBKG [OMIM

#300248], IL1RAPL1 [OMIM #300206],




Workbench, GATK






IQSEC2 [OMIM #300522], KDM5C

[OMIM #314690], KDM6A [OMIM

#300128], KIAA2022 [OMIM

#300524], L1CAM [OMIM #308840],

LAMP2 [OMIM #309060], LAS1L

[OMIM #300964], MAOA [OMIM

#309850], MBTPS2 [OMIM #300294],

MECP2 [OMIM #300005], MED12

[OMIM #300188], MID1 [OMIM

#300552], NAA10 [OMIM #300013],

NDP [OMIM #300658], NDUFA1

[OMIM #300078], NHS [OMIM

#300457], NLGN3 [OMIM #300336],

NLGN4X [OMIM #300427], NONO

[OMIM #300084], NSDHL [OMIM

#300275], OCRL [OMIM #300535],

OFD1 [OMIM #300170], OPHN1

[OMIM #300127], OTC [OMIM

#300461], PAK3 [OMIM #300142],

PCDH19 [OMIM #300460], PDHA1

[OMIM #300502], PGK1 [OMIM

#311800], PHF6 [OMIM #300414],

PHF8 [OMIM #300560], PIGA [OMIM

#311770], PLP1 [OMIM #300401],

PORCN [OMIM #300651], PQBP1


#311850], PTCHD1 [OMIM #300828],

RAB39B [OMIM #300774], RBM10

[OMIM #300080], RPS6KA3 [OMIM

#300075],



#300231], SMC1A [OMIM #300040],

SMS [OMIM #300105], SYN1 [OMIM

#313440], SYP [OMIM #313475], TAF1

[OMIM #313650], THOC2 [OMIM

#300395], TIMM8A [OMIM #300356],

TSPAN7 [OMIM #300096], UBE2A


#300298], USP9X [OMIM #300072],

WDR45 [OMIM #300526], ZDHHC15

[OMIM #300576], ZDHHC9 [OMIM

#300646], ZNF711 [OMIM #314990],

ZNF81 [OMIM #314998])






Ziliopathie (ACVR2B [OMIM #602730],

AHI1 [OMIM #608894], ALMS1 [OMIM

#606844], ANKS6 [OMIM #615370],

ARL13B [OMIM #608922], ARL6

[OMIM #608845], ARMC4 [OMIM

#615408], ATXN10 [OMIM #611150],

B9D1 [OMIM #614144], B9D2 [OMIM

#611951], BBIP1 [OMIM #613605],


#610148], BBS12 [OMIM #610683],


#600374], BBS5 [OMIM #603650],


#607968], BICC1 [OMIM #614295],

BMP4 [OMIM #112262], C21orf59

[OMIM #615494], C2CD3 [OMIM

#615944], C5orf42 [OMIM #614571],

CC2D2A [OMIM #612013], CCDC103


#615038], CCDC151 [OMIM #615956],

CCDC28B [OMIM #610162], CCDC39


#613799], CCDC65 [OMIM #611088],

CCNO [OMIM #607752], CENPF

[OMIM #600236], CEP104 [OMIM

#616690], CEP120 [OMIM #613446],

CEP164 [OMIM #614848],




Workbench, GATK

CEP290 [OMIM #610142], CEP41


#615847], CFAP53 [OMIM #614759],

CFC1 [OMIM #605194], CHD1L [OMIM

#613039], CRELD1 [OMIM #607170],

CSPP1 [OMIM #611654], DCDC2

[OMIM #605755], DDX59 [OMIM

#615464], DNAAF1 [OMIM #613190],

DNAAF2 [OMIM #612517], DNAAF3


#614864], DNAH1 [OMIM #603332],

DNAH11 [OMIM #603339], DNAH5


#603337], DNAI1 [OMIM #604366],



#610062], DRC1 [OMIM #615288],






DYNC2H1 [OMIM #603297], DYNC2LI1

[OMIM #617083], DYX1C1 [OMIM

#608706], EVC [OMIM #604831],

EVC2 [OMIM #607261], EXOC8


#607830], GAS8 [OMIM #605178],

GDF1 [OMIM #602880], GLIS2 [OMIM

#608539], HNF1B [OMIM #189907],

HYDIN [OMIM #610812], HYLS1

[OMIM #610693], IFT122 [OMIM

#606045], IFT140 [OMIM #614620],

IFT172 [OMIM #607386], IFT27

[OMIM #615870], IFT43 [OMIM

#614068], IFT52 [OMIM #617094],


#611177], INPP5E [OMIM #613037],

INVS [OMIM #243305], IQCB1 [OMIM

#609237],

KIAA0556 [OMIM #616650], KIAA0586


#617112], KIF14 [OMIM #611279],

KIF7 [OMIM #611254], LEFTY2 [OMIM

#601877], LRRC6 [OMIM #614930],

LZTFL1 [OMIM #606568], MAPKBP1

[OMIM #616786], MCIDAS [OMIM

#614086], MKKS [OMIM #604896],

MKS1 [OMIM #609883], MMP21

[OMIM #608416], MUC1 [OMIM

#158340], NEK1 [OMIM #604588],

NEK8 [OMIM #609799], NME8 [OMIM

#607421], NODAL [OMIM #601265],



#607215], OFD1 [OMIM #300170],

PAX2 [OMIM #167409], PDE6D

[OMIM #602676], PKD1 [OMIM

#601313], PKD1L1 [OMIM #609721],

PKD2 [OMIM #173910], PKHD1

[OMIM #606702],







POC1B [OMIM #614784], ROBO2

[OMIM #602431], RPGR [OMIM

#312610], RPGRIP1 [OMIM #605446],

RPGRIP1L [OMIM #610937], RSPH1


#615876], RSPH4A [OMIM #612647],

RSPH9 [OMIM #612648], SDCCAG8

[OMIM #613524], SIX2 [OMIM

#604994], SLC41A1 [OMIM #610801],

SPAG1 [OMIM #603395], TCTN1


#613846], TCTN3 [OMIM #613847],

TMEM138 [OMIM #614459],

TMEM216 [OMIM #613277],

TMEM231 [OMIM #614949],


[OMIM #609884], TRAF3IP1 [OMIM

#607380], TRIM32 [OMIM #602290],

TTC21B [OMIM #612014], TTC25

[OMIM #617095], TTC8 [OMIM

#608132], UMOD [OMIM #191845],

WDPCP [OMIM #613580], WDR19


#613363], WDR35 [OMIM #613602],

WDR60 [OMIM #615462], XPNPEP3


#300265], ZMYND10 [OMIM

#607070], ZNF423 [OMIM #604557])

Einzelgensequenzierung



ABL1 (OMIM # 189980) EDTA-Blut, EDTA-Knochenmark,



Knochenmark (cDNA wird analysiert)

PCR, Sanger-Sequenzierung, NGS

(semiconductor sequencing, Ion PGM-

System Thermofisher)

ANKRD26 (OMIM #610855) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




APC (OMIM #611731) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe









ASXL1 (OMIM #612990) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




ATM (OMIM #607585) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




BAP1 (OMIM #603089) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung, NGS



BCOR (OMIM #300485) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




BCORL1 (OMIM #300688) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




BIRC3 (OMIM #601721) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




BMPR1A (OMIM #601299) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




BPGM (OMIM #613896) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung, NGS



BRAF (OMIM #164757) EDTA-Blut, EDTA-Knochenmark,



BCT-Blut, DNA aus Blut, Knochenmark

und Tumorgewebe




BRCA1 (OMIM #113705) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe








BRCA2 (OMIM #600185) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe




BTK (OMIM #300300) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




CALR (OMIM #109091) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




CBL (OMIM #165360) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




CDH1 (OMIM #192090) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




CDK4 (OMIM #123829) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




CDKN1B (OMIM #600778) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




CDKN2A (OMIM #600160) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




CEBPa (OMIM #116897) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




CHEK2 (OMIM # 604373) EDTA-Blut, EDTA-Knochenmark,



Knochenmark








CSF3R (OMIM # 138971) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




CTNNB1 (OMIM #116806) DNA aus FFPE-Gewebe PCR, Sanger-Sequenzierung, NGS



CUX1 (OMIM #116896) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




CXCR4 (OMIM #162643) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




DDX41 (OMIM #608170) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




DNMT3A (OMIM #602769) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




EGFR (OMIM #131550) BCT-Blut, DNA aus FFPE-Gewebe und

Blut




EGLN1 (OMIM #606425) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




ELANE (OMIM #130130) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




EPOR (OMIM #133171) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




ERBB2 (OMIM #164870) DNA aus FFPE-Gewebe PCR, Sanger-Sequenzierung, NGS







ETNK1 (OMIM # 609858) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




ETV6 (OMIM #600618) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




EZH2 (OMIM #601573) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




FBXW7 (OMIM #606278) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




FGFR3 (OMIM #134934) DNA aus FFPE-Gewebe PCR, Sanger-Sequenzierung, NGS



GATA1 (OMIM #305371) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




GATA2 (OMIM #137295) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




GNAQ (OMIM #600998) DNA aus FFPE-Gewebe PCR, Sanger-Sequenzierung, NGS



GNAS (OMIM #139320) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe




H3F3A (OMIM #601128) DNA aus FFPE-Gewebe PCR, Sanger-Sequenzierung, NGS



HBA2 (OMIM #141850) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung, NGS







HBB (OMIM #141900) EDTA-Blut, DNA aus Blut PCR, Sanger-Sequenzierung, NGS



HRAS (OMIM #190020) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe




IDH1 (OMIM #147700) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe




IDH2 (OMIM #147650) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe




IKZF1 (OMIM #603023) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




JAK2 (OMIM #147796) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




JAK3 (OMIM #600173) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




KDM6A (OMIM #300128) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




KIT (OMIM #164920) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe








KLF2 (OMIM #602016) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




KRAS (OMIM #190070) EDTA-Blut, EDTA-Knochenmark,




und Tumorgewebe




MAX (OMIM #154950) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




MEN1 (OMIM #613733) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




MET (OMIM #164860) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe




MGMT (OMIM #156569) DNA aus FFPE-Gewebe PCR, Sanger-Sequenzierung, NGS



MLH1 (OMIM #120436) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




MPL (OMIM #159530) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




MSH2 (OMIM #609309) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




MSH6 (OMIM #600678) EDTA-Blut, EDTA-Knochenmark,



Knochenmark








MUTYH (OMIM #604933) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




MYD88 (OMIM #602170) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




NBN (OMIM #602667) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




NOTCH1 (OMIM #190198) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




NPM1 (OMIM #164040) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




NRAS (OMIM #164790) EDTA-Blut, EDTA-Knochenmark,




und Tumorgewebe




PALB2 (OMIM #610355) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




PDGFRa (OMIM #173490) DNA aus FFPE-Gewebe PCR, Sanger-Sequenzierung, NGS



PHF6 (OMIM #300414) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




PIK3CA (OMIM #171834) DNA aus FFPE-Gewebe PCR, Sanger-Sequenzierung, NGS



PLCG2 (OMIM #600220) EDTA-Blut, EDTA-Knochenmark,



Knochenmark








PMS1 (OMIM #600258) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




PMS2 (OMIM #600259) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




POLE (OMIM #174762) DNA aus FFPE-Gewebe PCR, Sanger-Sequenzierung, NGS



PRPF8 (OMIM #607300) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




PTEN (OMIM #601728) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




PTPN11 (OMIM #176876) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




RAD21 (OMIM #606462) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




RAD51C (OMIM #602774) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




RAD51D (OMIM #602954) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




RB1 (OMIM #180200) EDTA-Blut, EDTA-Knochenmark,



Knochenmark








RET (OMIM #164761) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe




RUNX1 (OMIM #151385) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




SDHAF2 (OMIM #613019) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




SDHB (OMIM #185470) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




SDHC (OMIM #602413) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




SDHD (OMIM #602413) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




SETBP1 (OMIM #269150) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




SF3B1 (OMIM #605590) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




SH2B3 (OMIM #605093) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




SMAD4 (OMIM #600993) EDTA-Blut, EDTA-Knochenmark,



Knochenmark








SMC3 (OMIM #606062) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




SRSF2 (OMIM #600813) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




STAG2 (OMIM #300826) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




STAT3 (OMIM #608489) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




STK11 (OMIM #602216) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




TERT (OMIM #187270) DNA aus FFPE-Gewebe PCR, Sanger-Sequenzierung, NGS



TET2 (OMIM #612839) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




THPO (OMIM #600044) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




TP53 (OMIM #191170) EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe




U2AF1 (OMIM #191317) EDTA-Blut, EDTA-Knochenmark,



Knochenmark








UBR5 (OMIM #608413) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




VHL (OMIM #193300) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




WT1 (OMIM #194070) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




XPO1 (OMIM #602559) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




ZEB2 (OMIM #605802) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




ZRSR2 (OMIM #300028) EDTA-Blut, EDTA-Knochenmark,



Knochenmark




Untersuchungsart:Molekularbiologische Untersuchungen (Amplifikationsverfahren)**



Aneuploidiediagnostik Genomische DNA

aus Einzelzellen, Polkörpern

WGA, Array basierte CGH

Aneuploidiediagnostik (nicht invasiver

Pränataltest): Trisomie 21, Trisomie,

18, Trisomie 13, gonosomale

Aberrationen

BCT-Blut (Streck), zellfreie

(fetale&maternale) DNA aus Blut

Gesamtgenomsequenzierung

(Illumina, TruseqNano) Sequencing-by-

synthesis (Illumina)

Genomische Imbalancen EDTA-Blut, Genomische DNA aus Blut Hybridisierungssonden

(Real-time PCR)

Chimärismusanalyse EDTA-Blut, EDTA-Knochenmark,



Knochenmark

Fluoreszenz-markierte

Hybridisierungssonden

(ddPCR), Fragmentlängenanalyse

Mikrosatelliteninstabilität DNA aus FFPE-Gewebe, DNA aus

Tumorgewebe

Fragmentlängenanalyse





AML-ETO Fusionsgen EDTA-Blut, EDTA-Knochenmark,



Knochenmark, cDNA



(ddPCR)

BCR-ABL Fusionsgen EDTA-Blut, EDTA-Knochenmark,



Knochenmark, cDNA



(ddPCR)

BRAF c.1799T>A EDTA-Blut, EDTA-Knochenmark,




und Tumorgewebe



(ddPCR)

CBFB-MYH11 Fusionsgen EDTA-Blut, EDTA-Knochenmark,



Knochenmark, cDNA



(ddPCR)

E2A-PBX Fusionsgen EDTA-Blut, EDTA-Knochenmark,



Knochenmark, cDNA



(ddPCR)

EGFR c.2573T>G, c.2369C>T,

c.2235_2249del15

DNA aus FFPE-Gewebe, BCT-Blut, DNA

aus Tumorgewebe und Blut



(ddPCR)

ETV6-RUNX1 Fusionsgen EDTA-Blut, EDTA-Knochenmark,



Knochenmark, cDNA



(ddPCR)

IDH1 c.395G>A EDTA-Blut, EDTA-Knochenmark,




Tumorgewebe



(ddPCR)

JAK 2 c.1849G>T EDTA-Blut, EDTA-Knochenmark,



Knochenmark



(ddPCR)

KIT c.2447A>T EDTA-Blut, EDTA-Knochenmark,



Knochenmark



(ddPCR)

KRAS c.35G>T, c.35G>C, c.34G>T,

c.35G>A, c.34G>C, c.34G>A, c.38G>A,

c.183A>C, c.182A>G





und Tumorgewebe



(ddPCR)





MLL-AF4 Fusionsgen EDTA-Blut, EDTA-Knochenmark,



Knochenmark, cDNA



(ddPCR)

MPL c.1544G>T EDTA-Blut, EDTA-Knochenmark,



Knochenmark



(ddPCR)

MYD88 c.794T>C EDTA-Blut, EDTA-Knochenmark,



Knochenmark



(ddPCR)

PML-RARa Fusionsgen EDTA-Blut, EDTA-Knochenmark,



Knochenmark, cDNA



(ddPCR)

PIK3CA c.1634A>C DNA aus FFPE-Gewebe, DNA aus

Tumorgewebe



(ddPCR)

SIL-TAL Fusionsgen EDTA-Blut, EDTA-Knochenmark,



Knochenmark, cDNA



(ddPCR)

TP53 c.473G>A EDTA-Blut, EDTA-Knochenmark,



Knochenmark



(ddPCR)

MLH1-Promotormethylierung DNA aus FFPE-Gewebe, DNA aus

Tumorgewebe

NGS (semiconductor sequencing, Ion

PGM-System Thermofisher)



Untersuchungsart:Molekularbiologische Untersuchungen (Hybridisierungsverfahren)**



Achondrogenesie (COL2A1-Gen) EDTA-Blut, DNA aus Blut MLPA

Adrenogenitales Syndrom, AGS

(CYP21A2-Gen)

EDTA-Blut, DNA aus Blut MLPA

Alagille-Syndrom (xG1-Gen) EDTA-Blut, DNA aus Blut MLPA

Alpha-Thalassämie (HBA1-, HBA2-

Gen)


Alpha-Thalassämie-X-chromosomale

Intelligenzminderung-Syndrom

(ATRX-Gen)


Alport-Syndrom (COL4A3-, COL4A4-,

COL4A5-, MYH9-Gen)


Androgeninsensitivität , AIS

(AR-Gen)


Angeborene Herzfehler (GATA4-,

NKX2-5-, TBX5-, BMP4-, CRELD1-Gen)


Aortendissektion, familiär thorakaler

Typ 3, AAT3 (TGFBR2-Gen)


Aortendissektion, familiär thorakaler

Typ 5, AAT5 (TGFBR1-Gen)


APC (OMIM #611731) EDTA-Blut, DNA aus Blut MLPA


Dysplasie, ARVD (DSP-, JUP-, DSC2-,

DSG2-, PKP2-, RYR2-, TGFB3-Gen)


ATM (OMIM #607585) EDTA-Blut, DNA aus Blut MLPA

Autismus (SHANK3-Gen) EDTA-Blut, DNA aus Blut MLPA

Bannayan-Riley-Ruvalcaba-Syndrom

(PTEN-Gen)


Basalzellnävus-Syndrom (PTCH1-Gen) EDTA-Blut, DNA aus Blut MLPA

Beta-Thalassämie (HBB-Gen) EDTA-Blut, DNA aus Blut MLPA

BMPR1A (OMIM #601299) EDTA-Blut, DNA aus Blut MLPA


(EYA1-Gen)


BRCA1 (OMIM #113705) EDTA-Blut, DNA aus Blut MLPA

BRCA2 (OMIM #600185) EDTA-Blut, DNA aus Blut MLPA

Brugada-Syndrom (SCN5A-Gen) EDTA-Blut, DNA aus Blut MLPA

Brustkrebs, familiär (BRCA1-, BRCA2-,

CHEK2-, PALB2-, RAD51C-Gen)


CDH1 (OMIM #192090) EDTA-Blut, DNA aus Blut MLPA





Charcot-Marie-Tooth Neuropathie

Typ 1 (PMP22-Gen)



Typ 1B, 2J, 2I (MPZ-Gen)



Typ 2A2A (MFN2-Gen)


CHARGE-Syndrom (CHD7-Gen) EDTA-Blut, DNA aus Blut MLPA

CHEK2 (OMIM # 604373) EDTA-Blut, DNA aus Blut MLPA

Chorea, hereditäre benigne (NKX2-1-

Gen)


Congenitale bilaterale Aplasie des Vas

deferens - CBAVD (CFTR-Gen)


Cornelia-de-Lange-Syndrom (NIPBL-

Gen)


Cystische Fibrose (CFTR-Gen) EDTA-Blut, DNA aus Blut MLPA

Dihydropyrimidin-Dehydrogenase-

Defizienz (DPYD-Gen)


Ehlers-Danlos-Syndrom (EDS) mit

Tenascin-X-Defizienz , TNXB-Gen


Ehlers-Danlos-Syndrom hypermobiler

Typ ( EDS Typ III), TNXB-Gen


Ehlers-Danlos-Syndrom klassischer

Typ (EDS Typ I/II), COL5A1-Gen


Ehlers-Danlos-Syndrom

kyphoskoliotischer Typ (EDS Typ VIA),

PLOD1-Gen


Ehlers-Danlos-Syndrom vaskulärer Typ

(EDS Typ IV), COL3A1-Gen


Epilepsie, frühkindliche Grand mal,

Dravet-Syndrom (SCN1A-Gen)


Epilepsie, frühkindliche X-gebundene

mit geistiger Behinderung (PCDH19-

Gen)


Episodische Ataxie Typ 1

(KCNA1-Gen)


Episodische Ataxie Typ 2, EA2

(CACNA1A-Gen)


Familiäre Hemiplegische Migräne,

FHM (CACNA1A-, ATP1A2-Gen)


Fechtner-Syndrom (MYH9-Gen) EDTA-Blut, DNA aus Blut MLPA





Fragiles X-Syndrom (FMR1-Gen) EDTA-Blut, DNA aus Blut Southern-Blot-Hybridisierung

Fragiles X-Tremor-Ataxie-Syndrom,

FXTAS (FMR1-Gen)

EDTA-Blut, DNA aus Blut Southern-Blot-Hybridisierung

Fragiles-X assoziierte prämature

Ovarialinsuffizienz, FXPOI (FMR1-Gen)


Fructoseintoleranz (ALDOB-, FBP1-

Gen)


Galaktosämie (GALT-Gen) EDTA-Blut, DNA aus Blut MLPA

Gitelman-Syndrom (SLC12A3-Gen) EDTA-Blut, DNA aus Blut MLPA

Glukosetransporter Typ 1-Defizienz-

Syndrom, GLUT1-DS (SLC2A1-Gen)


Hämochromatose (HFE-, SLC40A1-,

TFR2-, HFE2-, HAMP-Gen)


Hämophilie A (F8-Gen) EDTA-Blut, DNA aus Blut MLPA

Hämophilie B (F9-Gen) EDTA-Blut, DNA aus Blut MLPA

Hereditäre Neuropathie mit Neigung

zu Drucklähmungen, HNPP (PMP22-

Gen)


Heterotaxie (ZIC3-, ACVR2B-, NODAL-

Gen)


Hirn-Lunge-Schilddrüse-Syndrom

(NKX2-1-Gen)


Hörverlust (GJB3-Gen) EDTA-Blut, DNA aus Blut MLPA

Hörverlust, autosomal-rezessiv, nicht-

syndromal (GJB2-, GJB6-Gen)


Hypercholesterinämie, familiär (LDLR-

Gen)


Hyperoxalurie, primäre (AGXT-,

GRHPR-Gen)


Hypochondrogenesie (COL2A1-Gen) EDTA-Blut, DNA aus Blut MLPA

Hypokaliämische Periodische

Paralyse, HypoPP (CACNA1S-, SCN4A-

Gen)


Kabuki-Syndrom (KMT2D-, KDM6A-

Gen)


Kallmann-Syndrom (FGFR1-, GNRHR-,

KISS1R-, GNRH1-, NELF-, PROK2-,

PROKR2-Gen)






Kolonkarzinom, familiär, nicht-

polypös, HNPCC (MLH1-, MSH2-,

MSH6-, PMS2-Gen)


Kongenitale alveolar-kapilläre

Dysplasie, ACDMPV (FOXF1-Gen)


Kongenitale Fehlbildungen der Nieren

und ableitenden Harnwege, CAKUT

(HNF1B-Gen)


Legius-Syndrom (SPRED1-Gen) EDTA-Blut, DNA aus Blut MLPA

Leri-Weill-Dyschondrosteose (LWD),

Langer mesomele Dysplasie (LMD);

(SHOX-Gen)


Loeys-Dietz-Syndrom Typ 1A und 2A

(TGFBR1-Gen)


Loeys-Dietz-Syndrom Typ 1B und 2B

(TGFBR2-Gen)


LPL-Defizienz (LPL-Gen) EDTA-Blut, DNA aus Blut MLPA

LQT-Syndrom Typ 1 (KCNQ1-Gen) EDTA-Blut, DNA aus Blut MLPA

LQT-Syndrom Typ 2 (KCNH2-Gen) EDTA-Blut, DNA aus Blut MLPA

LQT-Syndrom Typ 5 (KCNE1-Gen) EDTA-Blut, DNA aus Blut MLPA

LQT-Syndrom Typ 6 (KCNE2-Gen) EDTA-Blut, DNA aus Blut MLPA

Makrozephalie (SHANK3-Gen) EDTA-Blut, DNA aus Blut MLPA

Maligne Hyperthermie (RYR1-,

CACNA1S-Gen)


Marfan-Syndrom (FBN1-, TGFBR1-,

TGFBR2-Gen)


Marfan-Syndrom Typ II / Marfan-

ähnliches Syndrom / Loeys-Dietz-

Syndrom, (TGFBR1-, TGFBR2-Gen)


Marschall-Syndrom

(COL11A1-Gen)


MAX (OMIM #154950) EDTA-Blut, DNA aus Blut MLPA

MECP2-Duplikationsyndrom (MECP2-

Gen)


MEN1 (OMIM #613733) EDTA-Blut, DNA aus Blut MLPA

Mikrozephalie (MCPH1-, ASPM-,

CDK5RAP2-, CENPJ-, STIL-Gen)


MLH1 (OMIM #120436) EDTA-Blut, DNA aus Blut MLPA





MODY-Diabetes Typ 1 (HNF4A-Gen) EDTA-Blut, DNA aus Blut MLPA

MODY-Diabetes Typ 2 (GCK-Gen) EDTA-Blut, DNA aus Blut MLPA

MODY-Diabetes Typ 3 (HNF1A-Gen) EDTA-Blut, DNA aus Blut MLPA

MODY-Diabetes Typ 4 (PDX1-Gen) EDTA-Blut, DNA aus Blut MLPA

MODY-Diabetes Typ 5 (HNF1B-Gen) EDTA-Blut, DNA aus Blut MLPA

MODY-Diabetes Typ 6 (NEUROD1-

Gen)


MODY-Diabetes Typ 7 (KLF11-Gen) EDTA-Blut, DNA aus Blut MLPA

MODY-Diabetes Typ 8 (CEL-Gen) EDTA-Blut, DNA aus Blut MLPA

MODY-Diabetes Typ 9 (PAX4-Gen) EDTA-Blut, DNA aus Blut MLPA

MODY-Diabetes Typ 10 (INS-Gen) EDTA-Blut, DNA aus Blut MLPA

Morbus Fabry (GLA-Gen) EDTA-Blut, DNA aus Blut MLPA

Morbus Pompe (GAA-Gen) EDTA-Blut, DNA aus Blut MLPA

Mowat-Wilson-Syndrom (ZEB2-Gen) EDTA-Blut, DNA aus Blut MLPA

MSH2 (OMIM #609309) EDTA-Blut, DNA aus Blut MLPA

MSH6 (OMIM #600678) EDTA-Blut, DNA aus Blut MLPA

Multiple endokrine Neoplasien (MEN1-

Gen)


Muskeldystrophie Duchenne / Becker

(DMD-Gen)


Myotone Dystrophie Typ1, DM1

(DMPK-Gen)


Nephronophthise (NPHP1-Gen) EDTA-Blut, DNA aus Blut MLPA

Nephrotisches Syndrom Typ 4 (WT1-

Gen)


Neurofibromatose Typ 1 (NF1-Gen) EDTA-Blut, DNA aus Blut MLPA

Nicht-dystrophische Myotonie (SCN4A-

Gen)


Nierenzysten und Diabetes, RCAD

(HNF1B-Gen)


Ohtahara-Syndrom (STXBP1-Gen) EDTA-Blut, DNA aus Blut MLPA

Ornithin-Transcarbamylase(OTC)-

Mangel (OTC-Gen)


Osteogenesis imperfecta (COL1A1-,

COL1A2-Gen)


PALB2 (OMIM #610355) EDTA-Blut, DNA aus Blut MLPA

Pankreatitis (PRSS1, SPINK1-Gen) EDTA-Blut, DNA aus Blut MLPA

Pendred-Syndrom (SLC26A4-Gen) EDTA-Blut, DNA aus Blut MLPA

Peutz-Jeghers-Syndrom (STK11-Gen) EDTA-Blut, DNA aus Blut MLPA





Phäochromozytom/Paragangliom

(SDHAF2-, SDHB-, SDHC-, SDHD-,

SDHA-, MAX-Gen)


Phenylketonurie (PAH-Gen) EDTA-Blut, DNA aus Blut MLPA

Pitt-Hopkins-Syndrom (TCF4-Gen) EDTA-Blut, DNA aus Blut MLPA

PMS2 (OMIM #600259) EDTA-Blut, DNA aus Blut MLPA

Polyposis coli, familiäre adenomatöse,

FAP (APC-Gen)


Polyposis coli, juvenile, JPS (BMPR1A-,

SMAD4-Gen)


Polyzystische Nierenerkrankung,

autosomal dominant, ADPKD (PKD1-,

PKD2-Gen)


Polyzystische Nierenerkrankung,

autosomal rezessiv, ARPKD (PKHD1-

Gen)


Porphyrie, akut (ALAD-, CPOX-,

HMBS-, PPOX-Gen)


Porphyrie, nicht akut (ALAS2-, FECH-,

UROD-, UROS-Gen)


Primäre Hyperoxalurie (AGXT-, GRHPR-

Gen)


Primäre ziliäre Dyskinesie (DNAI1-

Gen)


Propionazidämie (PCCA-Gen) EDTA-Blut, DNA aus Blut MLPA

Protein-S-Mangel (PROS1-Gen) EDTA-Blut, DNA aus Blut MLPA

Pseudoxanthoma Elasticum (ABCC6-

Gen)



(ENG-, ACVRL1-, BMPR2-Gen)


RAD51C (OMIM #602774) EDTA-Blut, DNA aus Blut MLPA

RAD51D (OMIM #602954) EDTA-Blut, DNA aus Blut MLPA

RB1 (OMIM #180200) EDTA-Blut, DNA aus Blut MLPA

Rett-Syndrom (MECP2-Gen) EDTA-Blut, DNA aus Blut MLPA

Rett-Syndrom ähnliche Erkrankungen

(SHANK3-Gen)


Rett-Syndrom, atypisches (CDKL5-,

NTNG1-, ARX-, FOXG1-Gen)


Rubinstein-Taybi-Syndrom (CREBBP-,

EP300-Gen)






Saethre-Chotzen-Syndrom (TWIST1-

Gen)


SDHA (OMIM #600857) EDTA-Blut, DNA aus Blut MLPA

SDHAF2 (OMIM #613019) EDTA-Blut, DNA aus Blut MLPA

SDHB (OMIM #185470) EDTA-Blut, DNA aus Blut MLPA

SDHC (OMIM #602413) EDTA-Blut, DNA aus Blut MLPA

SDHD (OMIM #602413) EDTA-Blut, DNA aus Blut MLPA

SMAD4 (OMIM #600993) EDTA-Blut, DNA aus Blut MLPA

Smith-Lemli-Opitz-Syndrom (DHCR7-

Gen)


Sotos-Syndrom (NSD1-Gen) EDTA-Blut, DNA aus Blut MLPA

Spinale Muskelatrophie, SMA (SMN1,

SMN2-Gen)


Spondyloepiphysäre Dysplasie

(COL2A1-Gen)


Sprachentwicklungsstörung (SHANK3-

Gen)


Stickler-Syndrom (COL2A1-, COL11A1-

Gen)


STK11 (OMIM #602216) EDTA-Blut, DNA aus Blut MLPA


(MYH9-Gen)


Taubheit, autosomal-dominant 3A

(GJB2-Gen)


Taubheit, autosomal-dominant 3B

(GJB6-Gen)


Taubheit, autosomal-dominant

6/14/38 (WFS1-Gen)


Taubheit, autosomal-rezessiv (STRC-,

OTOA-Gen)


Taubheit, autosomal-rezessiv 1A

(GJB2-Gen)


Taubheit, autosomal-rezessiv 1B

(GJB6-Gen)


Taubheit, X-chromosomal 2 (POU3F4-

Gen)


TP53 (OMIM #191170) EDTA-Blut, DNA aus Blut MLPA

TSC2/PKD1-Contiguous-Gene-

Syndrom (TSC2-, PKD1-Gen)






Tuberöse Sklerose

(TSC1-, TSC2-Gen)


Usher-Syndrom (PCDH15-, USH2A-

Gen)


VHL (OMIM #193300) EDTA-Blut, DNA aus Blut MLPA

Von-Hippel-Lindau-Syndrom (VHL-

Gen)


Wolfram-Syndrom (WFS1-Gen) EDTA-Blut, DNA aus Blut MLPA

X-gekoppelte Agammaglobulinämie

Typ Bruton, XLA (BTK-Gen)




Untersuchungsgebiet: Mikrobiologie

Untersuchungsart: Agglutinationsteste*


Streptokokken

(Lancefield-Antigen)

Bakterienkultur Partikelagglutination

Staphylokokken

(Koagulase, clumping factor, Protein

A, Polysaccharide)


Staphylococcus aureus, MRSA

(PBP 2)


Untersuchungsart: Empfindlichkeitstestungen von Bakterien, Parasiten, Pilzen*


Bakterien Keimkolonien in Reinkultur Agardiffusionstest, partielles

Buillondilutionsverfahren als

minimale Hemmkonzentration (MHK)

mit Extrapolation

Untersuchungsart: Keimdifferenzierung/-identifizierung/-typisierung*


Bakterien Bakterienkultur biochemisch, orientierend

(Katalase, Oxidase, Nitrocefin (Beta-

Lactamase))

Pneumokokken Bakterienkultur biochemisch, orientierend

(Optochin)

Staphylococcus saprophyticus Bakterienkultur biochemisch, orientierend

(Novobiocin)

gram-positive aerobe Bakterien Bakterienisolat biochemisch, aufwendig

gram-negative aerobe Bakterien Bakterienisolat biochemisch, aufwendig

Neisseria sp., Haemophilus sp. Bakterienisolat biochemisch, aufwendig

Anaerobier, Corynebakterien Bakterienisolat biochemisch, aufwendig

Hefen Pilzisolat biochemisch, aufwendig



Untersuchungsart: Kulturelle Untersuchungen*


Bakterien, Pilze Abstrich (urogenital, HNO), Blut in CO2-Atmosphäre,

mikroaerobe/anaerobe Atmosphäre,

spezifisch, unspezifisch

Bakterien, Pilze Urin spezifisch, unspezifisch,

Hemmstoffnachweistest,

Keimzahlbestimmung

Untersuchungsart: Ligandenassays*


Borrelia, IgG, IgM Serum ELISA

Treponema pallidum, Ig Serum ECLIA

Toxoplasma gondii, IgG, IgM Serum ECLIA

Untersuchungsart:Mikroskopie*


Bakterien, Pilze Abstrich Hellfeldmikroskopie nach Anfärbung

mittels Farbstoffen

Chlamydia trachomatis, psittaci,

pneumoniae, IgG, IgM

Serum indirekte

Immunfluoreszenzmikroskopie (MIF)

Untersuchungsart:Molekularbiologische Untersuchungen (Amplifikationsverfahren)*


Bordetalla pertussis, DNA Abstrich, Sputum Real-Time PCR

Bordetella parapertussis, DNA Abstrich, Sputum Real-Time PCR

Borrelia burgdorferi, DNA DNA, Punktat, Liqour Real-Time PCR

Chlamydia trachomatis, Neisseria

gonorrhoeae, DNA

Abstrich, Sputum Real-Time PCR (Duplex-PCR)

Chlamydia trachomatis, Mycolpasma

hominis, genitalium, Neisseria

gonorrhoeae, Trichomonas vaginalis,

Ureaplasma urealyticum, parvum,

DNA

Abstrich, Urin, Ejakulat Real-time PCR (Oligoplex-PCR)

Chlamydia pneumoniae, Haemophilus

influenzae, Mycoplasma pneumoniae,

Staphylococcus aureus, DNA

Abstrich, Sputum Real-time PCR (Oligoplex-PCR)



Untersuchungsgebiet: Virologie

Untersuchungsart: Ligandenassays*


Cytomegalievirus, IgG, IgM Serum, Plasma ELISA

Enteroviren, IgG, IgM Serum, Plasma ELISA

Eppstein-Barr-Virus, VCA, EA, EBNA,

IgG, IgM

Serum, Plasma ELISA

Hepatitis-A-Virus, Ig Serum, Plasma CMIA

Hepatitis-A-Virus, IgM Serum, Plasma CMIA

Hepatitis-B-Virus, Anti-HBc Ig Serum, Plasma CMIA

Hepatitis-B-Virus, Anti-HBc IgM Serum, Plasma CMIA

Hepatitis-B-Virus, Anti-HBe Ig Serum, Plasma CMIA

Hepatitis-B-Virus, Anti-HBs Ig Serum, Plasma CMIA

Hepatititis-B-Virus, HBe-Antigen Serum, Plasma CMIA

Hepatitis-B-Virus, HBs-Antigen,

qualitativ

Serum, Plasma CMIA

Hepatitis-B-Virus, HBs-Antigen,

quantitativ

Serum, Plasma CMIA

Hepatitis-C-Virus, Ig Serum, Plasma CMIA

Hepatitis-C-Virus, Ig Serum, Plasma Immunoblot

Hepatitis-D-Virus, Ig Serum, Plasma ELISA

Hepatitis-E-Virus, IgG, IGM Serum, Plasma ELISA

Herpes-Simplex-Virus, IgG, IgM Serum, Plasma ELISA

Humanes Immundefizienzvirus,

Antigen + Antikörper

Serum, Plasma CMIA

Humanes Immundefizienzvirus,

Antikörper

Serum, Plasma Immunoblot

Parvovirus B19, IgG, IgM Serum, Plasma ELISA

Rötelnvirus, IgG, IgM Serum, Plasma CMIA



Untersuchungsart:Molekularbiologische Untersuchungen (Amplifikationsverfahren)*


Adenoviren, DNA, Enteroviren,

Parechoviren, RNA

Abstrich, Sputum, Stuhl, Serum Real-time PCR (Triplex-PCR)

Coronaviren, Humanes

Metapneumovirus, Influenzaviren,

Parainfluenzaviren, Respiratory-

Syncytial-Virus, Rhinoviren, RNA

Abstrich, Sputum, Stuhl, Serum Real-time PCR (Oligoplex-PCR)

Hepatitis-B-Virus, DNA, quantitativ Serum, Plasma Real-time PCR

Hepatits-C-Virus, RNA, quantitativ Serum, Plasma Real-time PCR

Hepatits-C-Virus, RNA, Genotyp Serum, Plasma Real-time PCR

Humans Immundefizienzvirus, RNA,

quantitativ

Serum, Plasma Real-time PCR

Zikavirus, RNA Blut, Urin Real-time PCR



Hepatits-C-Virus, RNA, Genotyp Core Serum, Plasma Real-time PCR

Untersuchungsgebiet: Transfusionsmedizin

Untersuchungsart:Agglutinationsteste**


AB0-Blutgruppenbestimmung EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik

Serumgegenprobe zur AB0-

Bestimmung

EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik

Rh-D-Bestimmung EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik

Rhesusformel EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik

Kellsystem EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik

Antikörpersuchtest EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik

direkter Coombstest EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik



Untersuchungsart:Durchflusszytometrie**


HLA-Crossmatch CPDA1-Blut, Serum Durchflusszytometrie

HLA-Antikörper Serum Festphasenassay



HLA-Klasse I, II Genomische DNA SSO

HLA-Klasse I, II Genomische DNA SSP

HLA-Klasse I Genomische DNA DNA-Sequenzierung

HLA-Klasse II Genomische DNA DNA-Sequenzierung

HLA-Klasse II Genomische DNA DNA-Sequenzierung

HLA-Klasse I Genomische DNA Sequencing-by synthesis (Illumina),

MiSeq/HiSeq Illumina, IMGT HLA-

Datenbank

HLA-Klasse II Genomische DNA Sequencing-by synthesis (Illumina),

MiSeq/HiSeq Illumina, IMGT HLA-

Datenbank

KIR Genomische DNA SSP

KIR Genomische DNA SSO


Anlage zur Akkreditierungsurkunde D-ML-13317-01-00 · TAK Serum, Plasma ECLIA Untersuchungsart:...

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Transcript of Anlage zur Akkreditierungsurkunde D-ML-13317-01-00 · TAK Serum, Plasma ECLIA Untersuchungsart:...