Patient's SURNAME, First Name
Stamp of Physician/Clinic and/or Barcode
Prof. Elke Holinski-Feder, MD Angela Abicht, MDHuman Geneticists
Bayerstr. 3 – 5D-80335 Munich
Tel. +49 89 / 30 90 886 - 0Fax +49 89 / 30 90 886 - 66 [email protected]
All forms are availablefrom our website:www.mgz-muenchen.de
AOK LKK BKK IKK VdAK AEV Knappschaft
Insurance Provider Insurance Number Status
Date of Birth
Physician Insurance valid until Today's Date
MedizinischGenetisches Zentrum
06/ 2
013
ENG
Sample date Time
Sex male female
Cost carrier: Invoice to patient Invoice to clinic E112 (European Union only)
We have been informed of and agree to the costs of the test according to the
cost estimate provided (please enclose copy).
Patient known to MGZ - Medizinisch Genetisches Zentrum? Yes No
For follow-up questions and the forwarding of test results, please indicate:
Name of attending physician and/or ward:
Telephone Telefax
Please indicate clinical diagnosis, symptoms or test results and family history:
Have any genetic tests already been performed? Yes No
If yes, which? Results?
In accordance with the German Genetic Diagnostics Act (GenDG), I consent to genetic testing corresponding to the
accompanying request and/or for the purpose of clarifying the abovementioned clinical problem(s) as well as to:
the forwarding of this request to a specialised cooperating laboratory
(if required).
No
the storage of my genetic material for new diagnostic possibilities, for
the verification of results, as well as for scientific purposes (please cross
out those options which do not apply).
No
the use of my test results in the counseling and testing of family members. No
the archiving of my test results beyond the legally regulated timespan of 10
years.
No
I consent to the forwarding of my test results to the following doctors:
This declaration of consent in accordance with the German Genetic Diagnostics Act (GenDG) is valid for me and/
or for my child and may be revoked in whole or in part at any time. I have had sufficient time to consider giving
my consent.
Date, Place Signature of patient or his / her legal representative Attending physician
Patient's name:
Chromosome Analyses Karyotype analysis of peripheral blood Karyotype analysis of amniotic fluid Karyotype analysis of chorionic (CVS) / placenta villi Karyotype analysis of umbilical cord blood Karyotype analysis of skin fibroblasts Karyotype analysis of products of conception
Molecular Karyotyping / Array-CGH Diagnostics Array-CGH diagnostics (Oligo-Array) Array-CGH diagnostics (Oligo-Array), prenatal
Molecular Cytogenetics – FISH-Diagnostics FISH aneuploidy screening (chrom. 13, 18, 21, X and Y) Trisomy 21 (blood smear) Subtelomere analysis FISH diagnostics (please indicate problem)
Sample: EDTA blood HEPARIN blood Other ! IMPORTANT : EDTA blood of parents required Diagnostics only upon prior arrangement
Cytogenetics and Molecular CytogeneticsUdo Koehler, PhD
Smith-Magenis Syndrome, Microdeletion 17p11.2 Further diagnostics: RAI1
Sotos Syndrome, NSD1 Stickler Syndrome COL2A1 COL11A1 Stüve-Wiedemann Syndrome, LIFR Thanatophoric Dysplasia, FGFR3 Weaver Syndrome, EZH2 Weill-Marchesani Syndrome ADAMTS10 ADAMTS17 X-Linked Mental Retardation, Christianson Type
(Angelman-like Syndrome), SLC9A6 X-Linked Mental Retardation,
Creatine Transporter Deficiency, SLC6A8 X-Linked Mental Retardation, XLMR, Linkage
Familial Tumor Diseases, Gastroenterology **Prof. Elke Holinski-Feder, MD; Brigitte Schönfeld, MD;Andreas Laner, PhD; Teresa Neuhann, MD
Adenomatous Polyposis APC MUTYH Analysis of tumor tissue
MLH1 promoter methylation* BRAF* KRAS* Microsatellite analysis
Birt-Hogg-Dubé Syndrome, FLCN Breast / Ovarian Cancer BRCA1 BRCA2 ATM
RAD51C RAD51D CHEK2 hotspot CHEK2 complete Carney Complex, PRKAR1A Cowden Syndrome, PHTS, PTEN Gorlin Syndrome, Nevoid Basal Cell Syndrome, PTCH1 Hemorrhagic Telangiectasia, Osler-Rendu-Weber Syndrome
ENG ACVRL1 Hereditary Papillary Renal Cell Carcinoma, MET Proto-Onkogene HNPCC, Lynch Syndrome
MLH1 MSH2 MSH6 PMS2 Juvenile Polyposis BMPR1A SMAD4 ENG Constitutional MMR Deficiency Syndrome, CMMR-D Leiomyomatosis / Renal Cell Cancer, FH Li-Fraumeni Syndrome, p53 Stomach Cancer, E-Cadherin, CDH1 Malignant Melanoma, p16 / CDKN2A Multiple Endocrine Neoplasia Type 1, MEN1, MEN1 Multiple Endocrine Neoplasia Type 2, MEN2, RET
MEN2A MEN2B Pancreatitis SPINK1 PRSS1 CFTR Pancreatic Carcinoma PALB2 p16 / CDKN2A Paraganglioma-Pheochromocytoma Syndrome
PGL1, SDHD PGL3, SDHC PGL4, SDHB Pheochromocytoma MAX TMEM127 Peutz-Jeghers Syndrome, STK11 Schwannomatosis, INI1 / SMARCB1 Von Hippel-Lindau Syndrome, VHL Wilms Tumor, WT1
Multi-Gene Panels (Next Generation Sequencing) Congenital Myasthenic Syndromes (CMS) Hereditary Neuropathies (HMSN / CMT) Mitochondrial Diseases Epileptic Encephalopathy
Detailed information available at www.mgz-muenchen.de
Mental Retardation and Dysmorphic SyndromesProf. Elke Holinski-Feder, MD; Stefanie Balg, MD;Teresa Neuhann, MD; Brigitte Schönfeld, MD
Array-CGH / MLPA Diagnostics Microdeletion / Microduplication Syndrome If applicable, specific syndrome: Autism
Achondroplasia, FGFR3 Alpha Thalassemia with mental retardation, ATRX Andermann Syndrome, ACCPN, KCC3, SLC12A6 Angelman Syndrome: Methylation test
Further diagnostics: Negative methylation test: UBE3A ! Positive methylation test: UPD15
ARX-associated diseases Partington Syndrome XLAG Syndrome X-Linked West Syndrome XMESID Syndrome
Beckwith-Wiedemann Syndrome: Methylation test Further diagnostics: Negative methylation test: CDKN1C ! Positive methylation test: UPD11
Berardinelli-Seip Congenital Lipodystrophy, BSCL2 (Exon 3) Coffin-Lowry Syndrome, RSK2 DiGeorge/ VCFS Syndrome, Microdeletion 22q11.21 Fragile X Syndrome, FMR1 Hypochondroplasia, FGFR3 Kabuki Syndrome, MLL2 Legius Syndrome, SPRED1 Marfan Syndrome, FBN1 Menkes Disease, ATP7A Mental Retardation, Hyperkinesia, Epilepsy, MEF2C Mowat-Wilson Syndrome, ZEB2 Opitz G/BBB Syndrome, MID1 Pitt-Hopkins Syndrome, TCF4 Prader-Willi Syndrome: Methylation test
Further diagnostics: ! Positive methylation test: UPD15
Rett Syndrome, MECP2 Rett Syndrome, congenital variant, FOXG1 Rett Syndrome with Infantile Epilepsy, CDKL5 Silver-Russell Syndrome: Methylation test
Further diagnostics: ! Negative methylation test: UPD 7
Molecular Genetics
**Our lab is accredited by the German National Accreditation Council (DAkkS) in accordance with DIN EN ISO/IEC 15189 and DIN EN ISO 17025 — except for those analyses marked with an asterisk (*).
In order to select the appropriate gene(s), please refer to the anamnesis forms and/or information on our website: www.mgz-muenchen.de / downloads.html
Patient's name:
Familial Infantile Epilepsy, PRRT2 Absence Epilepsy in Childhood CACNA1H SLC2A1 Unverricht-Lundborg Disease, CSTB Juvenile Myoclonic Epilepsy, EFHC1 POLG-associated Epilepsy, POLG
Migraine / Channel Diseases / Paroxysmal Neurological DisordersAngela Abicht, MD; Prof. Bernd Rautenstrauss, ScD
Familial Hemiplegic Migraine (FHM) CACNA1A (FHM1) ATP1A2 (FHM2) SCN1A (FHM3)
Alternating Hemiplegia of Childhood, ATP1A3 Episodic Ataxia Type 2, CACNA1A Ondine Syndrome, PHOX2B Periodic Paralysis SCN4A CACNA1S Paroxysmal Kinesigenic Dyskinesia, PRRT2 Paroxysmal Exertion-induced Dystonia, DYT18, SLC2A1
Neuropathies **Prof. Bernd Rautenstrauss, ScD; Angela Abicht, MD
Multi-Gene Panel: Hereditary Neuropathies Detailed information available at www.mgz-muenchen.de
Hereditary Neuropathy with Pressure Palsy, HNPP PMP22 Deletion PMP22 Point mutation
Hereditary Motor and Sensory Neuropathy HMSN1, CMT1A PMP22 Duplication
HMSN1, predominantly demyelinating PMP22 Cx32 PRPS1 MPZ SH3TC2 SIMPLE EGR2 PRX HYCCIN (with cataracts) NDRG1 FGD4 MTMR2 SBF2 (with glaucoma) FIG4 Congenital Cataract Facial Dysmorphism Neuropathy Syndrome, CCFDN, CTDP1
HMSN2, predominantly axonal MFN2 LMNA RAB7 TRPV4 NEFL AARS GDAP1 BSCL2 (Exon 3) HSPB1 HSPB8 MED25 (Mutation A335V)
HMSN, intermediary: DNM2 YARS KARS Distal Hereditary Motor Neuropathies (dHMN)
HSPB8 HSPB1 HSPB3 GARS SETX DCTN1 (ALS-associated)
Giant Axon Neuropathy, GAN1, GAN Hereditary Sensory and Autonomic Neuropathies
HSAN1A, SPTLC1 HSAN1C, SPTLC2 HSAN2, WNK1 HSAN4, NTRK1 HSAN5, NGFB HSAN2C, KIF1A
Hereditary Neuralgic Amyotrophy, HNA, SEPT9 Erythermalgia, SCN9A Pain Tolerance, SCN9A Andermann Syndrome, ACCPN, KCC3, SLC12A6
Familial Ophthalmological DiseasesTeresa Neuhann, MD; Prof. Bernd Rautenstrauss, ScD
Hereditary Optic Atrophies Autosomal dominant Optic Atrophy OPA1 OPA3 Leber's Hereditary Optic Neuropathy, LHON, ND1, ND4, ND6 Autosomal recessive Optic Atrophy, TMEM126
X-Linked Congenital Nystagmus, FRMD7 Isolated Ectopia lentis ADAMTSL4 FBN1 LTBP2 Syndromic Ectopia lentis
Weill-Marchesani Syndrome ADAMTS10 ADAMTS17 Marfan Syndrome, FBN1
Aniridia, PAX6 Primary Congenital Glaucoma, CYP1B1 Keratoconus, VSX1 Stickler Syndrome COL2A1 COL11A1 Microphthalmia / Anophthalmia, SOX2, OTX2
Congenital Myasthenic Syndromes (CMS) /Fetal Akinesia Sequence **Angela Abicht, MD
Multi-Gene Panel: Congenital Myasthenic Syndromes Detailed information available at www.mgz-muenchen.de
Congenital Myasthenic Syndromes / Fetal Akinesia GFPT1 CHRNE CHRNA1 CHRNB1 CHRND CHRNG RAPSN DOK7 COLQ CHAT SCN4A
Muscular DiseasesAngela Abicht, MD; Stefanie Bulst, PhD;Prof. Elke Holinski-Feder, MD
Centronuclear Myopathy MTM1 DMN2 RYR1 BIN1 Congenital Muscular Dystrophy, CMD
COL6A1 COL6A2 COL6A3 CHKB
LMNA LAMA2 FKRP SEPN1 Congenital Myopathy
Core Myopathy RYR1 SEPN1 Nemaline Myopathy ACTA1 CFL2 NEB
TPM2 TPM3 TNNT1 KBTBD13
Limb-Girdle Muscular Dystrophy CAV3 FKRP LMNA
Malignant Hyperthermia RYR1 CACNA1S (p.R1086H) Duchenne / Becker Muscular Dystrophy, DMD
Deletions / duplications in all 79 exons Point mutations Linkage analysis
Emery-Dreifuss Muscular Dystrophy LMNA EMD Myoadenylate Deaminase Deficiency, MAD, AMPD1 Myotonic Dystrophy Type 1, DMPK Myotonic Dystrophy Type 2, PROMM, ZNF9 Myopathy with Neutral Lipid Storage Disease
CPT2 ETFDH PNPLA2 Myotonia congenita, CLCN1 Paramyotonia congenita, SCN4A Myotonia, CAV3-associated
Neurodegenerative Diseases / AtaxiaAngela Abicht, MD; Prof. Bernd Rautenstrauss, ScD
Amyotrophic Lateral Sclerosis, ALS SOD1 C9ORF72 TARDBP FUS FIG4 ANG
Apolipoprotein E4 Allele with Alzheimer's Disease, APOE Ataxia with Oculomotor Apraxia
APTX (AOA1) SETX (AOA2) Ataxia Telangiectasia, ATM Chorea Acanthocytosis, VPS13A Dementia, frontotemporal and / or ALS, C9ORF72 Dementia, familial, Alzheimer type PSEN1 PSEN2 APP Dentatorubral-Pallidoluysian Atrophy, DRPLA, ATN1 Fragile X-associated Tremor / Ataxia Syndrome, FXTAS, FMR1 Friedreich's Ataxia, FRDA Huntington's Disease, HTT Spinal Muscular Atrophy, Type I, II, III, SMN1 Spinal Muscular Atrophy with Respiratory Distress, IGHMBP2 Spinal Muscular Atrophy, X-linked, infantile, SMAX2, UBE1 Spinal and Bulbar Muscular Atrophy, Kennedy Type, AR Spinocerebellar Ataxia Types 1, 2, 3, 6, ATXN1, 2, 3, CACNA1A Spinocerebellar Ataxia Type 7, ATXN7 Spinocerebellar Ataxia Type 8, ATXN8 Spinocerebellar Ataxia 17, TBP
Epilepsies **Angela Abicht, MD; Prof. Bernd Rautenstrauss, ScD; Prof. Elke Holinski-Feder, MD
Multi-Gene Panel: Epileptic Encephalopathy Detailed information available at www.mgz-muenchen.de
Infantile Epilepsy SCN1A, Dravet Syndrome PCDH19, with mental retardation (girls only) CDKL5 (predominantly girls) FOXG1 ARX, X-linked West Syndrome STXBP1, Ohtahara Syndrome SLC2A1, GLUT1 Deficiency Syndrome
Early Infantile Epilepsy with suspected syndrome SLC9A6, X-linked mental retardation Christianson type MECP2, Rett Syndrome Angelman Syndrome, methylation test, UBE3A
GLUT1 Deficiency Syndrome, GLUT1, SLC2A1 GEFS+ (Generalized Epilepsy with Febrile Seizures plus)
SCN1A SCN1B SCN2A GABRD (Juvenile Myoclonic Epilepsy) GABRG2 (Absence Epilepsy in Childhood)
Benign Familial Neonatal Convulsions (BFNC) KCNQ2 KCNQ3
Sample: EDTA blood HEPARIN blood Other ! IMPORTANT : EDTA blood of parents required Diagnostics only upon prior arrangement
Patient's name:
Mitochondrial DiseasesRita Horváth, MD; Angela Abicht, MD; Birgit Czermin, PhD
Multi-Gene Panel: Mitochondrial Diseases Detailed information available at www.mgz-muenchen.de
Select according to clinical symptoms: Coenzyme Q10 Deficiencies:
PDSS1 PDSS2 ETFDH ETFA/B COQ2 COQ6 COQ9 APTX CABC1 / ADCK3
Congenital Muscular Dystrophy w/ enlarged Mitochondria, CHKB Early Infantile (Hepatic) Encephalomyopathy
POLG (Alpers Syndrome) PEO1 (Twinkle) DGUOK MPV17 hepatic form TK2 RRM2B myopathic form SUCLA2 SUCLG1 encephalomyopathic form
Kearns-Sayre Syndrome / CPEO sporadic, mtDNA deletions in muscle DNA familial POLG PEO1 (Twinkle) TK2 ANT1 POLG2 RRM2B OPA1
Leigh / Leigh-like Syndrome MTATP6+8 PDHA1 SURF1 COX6B1 FASTKD2
MELAS mt-tRNALeu (m.3243A>G) mt-tRNAs MERRF mt-tRNALys (m.8344A>G) mt-tRNAs Mitochondrial Cardiomyopathy
TAZ / Barth SCO2 mt-tRNAs MTATP6+8 SLC25A3 TMEM70 COX15 SDHA AGK
Mitochondriale Myopathy CHKB mtDNA deletions / point mutations in muscle DNA Complete sequencing of mtDNA
MNGIE / Mitochondrial Neurogastrointestinal Encephalomyopathy: ECGF1 / TYMP
Mitochondrial Translation Deficiency mt-tRNAs TSFM EFG1 / GFM1 PUS1 TUFM MRPS16 TRMU YARS2
Multiple Acyl-CoA Dehydrogenase Deficiency ETFA ETFB ETFDH ACADVL
NARP / Neuropathy, Ataxia, and Retinitis pigmentosa, MTATP6+8 Optic Atrophy
LHON / Leber's Hereditary Optic Neuropathy m.3460G>A (ND1) m.11778G>A (ND4) m.14484T>C (ND6) MTND1-6 Autosomal dominant Optic Atrophy, ADOA, OPA1
Pearson Syndrome: mtDNA deletion Rhabdomyolysis, Exercise Intolerance, Elevated CK
CPT2 LPIN1 ETFDH MTCYB ACADVL SANDO / Sensory Ataxia, Neuropathy, Dysarthria, Ophthalmoplegia
POLG PEO1 (Twinkle) Thiamine-Responsive Megaloblastic Anemia, TRMA, SLC19A2 Wolfram Syndrome, DIDMOAD, WFS1
Select according to biochemical test results (muscle biopsy): Complex I Deficiency: NDUFA1 NDUFA8 NDUFA11
NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 ACAD9
Complex II Deficiency: SDHA SDHAF1 Complex III Deficiency: BCS1L MTCYB TTC19 Complex IV Deficiency: MTCOI-III SCO1
SCO2 SURF1 COX10 COX15 TACO1 ETHE1 COX6B1 FASTKD2
Complex V Deficiency: MTATP6+8 TMEM70 mtDNA Depletions: POLG PEO1 (Twinkle) AGK
DGUOK MPV17 TK2 RRM2B SUCLA2 SUCLG1
Translation Deficiency: TSFM mt-tRNAs EFG1 / GFM1 TUFM MRPS16 TRMU PUS1 YARS2 EARS2 AARS2 MTO1 MTFMT
Normal Activity: mtDNA Deletionen POLG ANT1 POLG2 RRM2B OPA1 PEO1/Twinkle SLC25A3 (mt phosphate carrier)
Coenzyme Q10 Deficiency: See genes listed above.
mtDNA targeted diagnostics: MTCOI-III MTCYTB MTATP6+8 MTND1-6 mt-tRNAs Analysis of mtDNA deletions Analysis of mtDNA depletion Complete sequencing of mtDNA
Vascular DiseasesAngela Abicht, MD; Teresa Neuhann, MD
Porencephaly / Cerebral Microangiopathy / Apoplexy COL4A1 COL4A2
Marfan Syndrome, FBN1
Familial Metabolic DiseasesStephanie Kleinle, PhD
Alpha 1-Antitrypsine Deficiency, PI1 Apolipoprotein B100, ABOB Apolipoprotein E, APOE Beta Oxidation Defects
ETFA ETFB ETFDH ACADVL Congential Adrenal Hyperplasia, CAH, CYP21A2 Creatine Transporter Deficiency, SLC6A8 Cystic Fibrosis, CFTR (please indicate ethnic origin)
Screening for the most common mutations
Deletion / duplication in all CFTR exons Complete analysis of the CFTR gene Mutation F508del
Gilbert's Syndrome (Gilbert-Meulengracht), UGT1A1 GLUT1 Deficiency Syndrome, GLUT1, SLC2A1 Hemochromatosis, HFE Menkes Syndrome, ATP7A
Infertility and Reproductive Medical GeneticsUlrike Schön, PhD; Udo Koehler, PhD
Azoospermia Factor, AZF CBAVD (Congenital Bilateral Aplasia of Vas deferens) / 5T-Allel Polar Body / Preimplantation Diagnostics (PGD)
Monogenic diseases Array-CGH
Premature Ovarian Failure, POF, FMR1 Sex-determining Region Y, SRY (deletion analysis)
Parentage / Linkage / Human Leukocyte AntigenAndreas Laner, PhD
DNA asservation Contamination test HLA-DQB1*0602 in cases of narcolepsy Linkage analysis (upon prior arrangement) Paternity / Maternity / Familial relationship testing Uniparental Disomy 2, 7, 9, 11, 13, 14, 15, 16, 20, 22 X-Inactivation
PharmacogeneticsAndreas Laner, PhD
5FU toxicity, DPD Thiopurine toxicity, TPMT Irinotecan toxicity, UGT1A1 MTX toxicity, MTHFR CYP2D6 in cases of Tamoxifen therapy
Thrombophilia/ Hematology Beta Thalassemia, HBB Factor V Leiden mutation, F5 Methylenetetrahydrofolate reductase mutation, MTHFR Prothrombin gene mutation, F2 Sickle-cell anemia, HBB X-Linked Agammaglobulinemia (Bruton type), BTK
!
In order to select the appropriate gene(s), please refer to the anamnesis forms and/or information on our website: www.mgz-muenchen.de / downloads.html **Our lab is accredited by the German National Accreditation Council (DAkkS) in accordance with DIN EN ISO/IEC 15189 and DIN EN ISO 17025 — except for those analyses marked with an asterisk (*).
Sample: EDTA blood HEPARIN blood Other ! IMPORTANT : EDTA blood of parents required Diagnostics only upon prior arrangement
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