Einrichtung

SYNLAB MVZ Humangenetik Freiburg GmbH

Prof. Dr. med. Jürgen Kohlhase, Ärztl. Leiter
Heinrich-von-Stephan-Str. 5
79100 Freiburg
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. med. Jürgen Kohlhase

Kategorisierung

  • Genetische Beratung
  • Zytogenetik
  • Molekulare Zytogenetik
  • Molekulargenetik
  • Tumorzytogenetik

Akkreditierung

Akkreditiert seit: 22.12.2009
Akkreditierende Organisation: DGA
Beschreibung: Unser Labor ist seit dem 22.12.2009 nach DIN EN ISO / IEC 15189 akkreditiert für medizinische Laboratoriumsdiagnostik (Humangenetik, molekulare Humangenetik) und nach DIN EN ISO / IEC 17025 für forensische Genetik (Deutsche Gesellschaft für Akkreditierung (DGA, vormals DACH, www.dga-mbh.de).

Andere Einstellungen

  • Subtelomer-Tests
  • Pränataler Schnelltest

Hauptkontakt des Instituts

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

Genetische Beratung

Allgemeine Anmeldung, Sekretariat

Diagnosen

Gen Krankheit OMIM Methode
CHD7
SEMA3E
CHARGE-Syndrom214800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FAM58A
SALL1
SALL4
Townes-Brocks-Syndrom107480
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SALL4
Okihiro-Syndrom607323
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SALL4
TBX5
Holt-Oram-Syndrom142900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
C9ORF72
GRN
MAPT
Frontotemporale Demenz mit Parkinsonismus600274, 615911
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL1A1
COL5A1
COL5A2
Ehlers-Danlos-Syndrom Typ I130000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TBX3
Ulna-Mamma-Syndrom181450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RECQL4
USB1
Rothmund-Thomson-Syndrom268400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MIR17HG
MYCN
Feingold Syndrom164280
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
WNT3
Tetraamelie273395
  • Sanger-Sequenzierung
AN2
Aniridie Typ II106210
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Morbus Fabry301500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL17A1
Epidermolysis bullosa junctionalis progressiv226650
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • Deletionsscreening
LAMA3
LAMB3
LAMC2
Epidermolysis bullosa letalis226700
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
EXPH5
KRT14
KRT5
Epidermolysis bullosa simplex131760
  • Sanger-Sequenzierung
CX26
KID-Syndrom (autosomal dominant)148210
  • Sanger-Sequenzierung
GJB3
GJB4
Erythrokeratodermia variabilis133200
  • Sanger-Sequenzierung
KIND1
Kindler-Syndrom173650
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
FKRP
Muskeldystrophie Gliedergürtel-Typ 2I (autosomal rezessiv)607155
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CDKL5
FOXG1
MECP2
Rett-Syndrom312750
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
APP
MAPT
PSEN1
Alzheimer-Demenz (familiär) Typ 1104300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRNP
Insomnie (fatal familiär)600072
  • Sanger-Sequenzierung
HOXA1
ATHABASKAN Stammhirn Dysgemesie Syndrom601536
  • Sanger-Sequenzierung
WNT7A
Ulna- und Fibulaaplasie mit schweren Gliedmaßendefekten276820
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
KIF21A
PHOX2A
TUBB3
Kongenitale Fibrose der äusseren Augenmuskeln Typ 1135700
  • Sanger-Sequenzierung
GLI3
KIF7
Greig-Syndrom175700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL3A1
COL5A1
Ehlers-Danlos-Syndrom Typ IV130050
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
ARSA
PSAP
Leukodystrophie (metachromatisch)250100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CDH1
Magenkarzinom (hereditäres diffuses)137215
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ARX
DCX
Lissenzephalie (X-chromosomal)300067
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
LIS 1
Lissenzephalie 1 (autosomal)607432
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CREBBP
EP300
Rubinstein-Taybi-Syndrom180849
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ITGA6
ITGB4
Epidermolysis bullosa mit Pylorusatresie226730
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • Deletionsscreening
COL4A3
COL4A4
Alport-Syndrom (autosomal rezessiv)203780
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
COL4A5
Alport-Syndrom (X-chromosomal)301050
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • quantitative PCR (realtime PCR)
SPINK5
Netherton-Syndrom256500
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CDK4
CDKN2A
Melanom (familiär)155600
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
TP63
EEC-Syndrom 3604292
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
PTCH
Basalzellnävus-Syndrom109400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HSPG2
LIFR
Stüve-Wiedemann-Syndrom601559
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FLG
Ichtyosis vulgaris146700
  • Sanger-Sequenzierung
CTSC
SLURP1
Mal de Meleda248300
  • Sanger-Sequenzierung
HESX1
Septo-optische Dysplasie182230
  • Sanger-Sequenzierung
CYP11B1
CYP21
Adrenogenitales Syndrom (AGS) bei 21-Hydroxylase-Mangel201910, 202110
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • quantitative PCR (realtime PCR)
B3GALTL
Peters Plus Syndrom261540
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
DMD
Muskeldystrophie Duchenne310200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • quantitative PCR (realtime PCR)
COL7A1
Epidermolysis bullosa dystrophica - Pasini-Typ131750
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • Deletionsscreening
COL4A1
COL4A2
Familiäre Porenzephalie175780
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GALC
PSAP
Morbus Krabbe245200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PLEC
Epidermolysis bullosa simplex und Gliedergürtel-Muskeldystrophie226670
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
MED12
FG-Syndrom / FG-Syndrom 1305450
  • Sanger-Sequenzierung
NF1
SPRED1
Neurofibromatose Typ I162200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FOXP1
FOXP2
Sprachentwicklungsstörung602081
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
STS
Ichthyose (X-chromosomal)308100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Mukopolysaccharidose 6253200
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
MET
Nierenkarzinom (hereditär papillär)605074
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CYP1B1
FOXC1
PITX2
Rieger-Syndrom180500
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
ALX4
MSX2
Parietale Foramina168500
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
SGSH
Mukopolysaccharidose 3A252900
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
NAGLU
Mukopolysaccharidose 3B252920
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
HGSNAT
Mukopolysaccharidose 3C252930
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
GNS
Mukopolysaccharidose 3D252940
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
Mukopolysaccharidose 4A253000
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
Mukopolysaccharidose 4B253010
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
Mukopolysaccharidose Typ II309900
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
IDUA
Mukopolysaccharidose Typ IH/S607015
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
GBE1
Glykogenspeicherkrankheit IV232500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AGL
Glykogenspeicherkrankheit Typ III232400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL3A1
TNXB
Ehlers-Danlos-Syndrom Typ III130020
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATP1A2
CACNA1A
SCN1A
Migräne Typ 2 (familiäre hemiplege)602481
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • quantitative PCR (realtime PCR)
SLC2A1
GLUKOSE TRANSPORT DEFEKT, BLUT-HIRN SCHRANKE138140
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MUTYH
Polyposis coli (familiär adenomatös)175100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LMNA
Muskeldystrophie Gliedergürtel-Typ 1B159001
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
ARX
CDKL5
X-chromosomale geistige Behinderung mit BNS-Krämpfen308350
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • quantitative PCR (realtime PCR)
AVPR2
Diabetes insipidus (nephrogen; X-chromosomal)304800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AQP2
Diabetes insipidus (nephrogen; autosomal rezessiv)222000
  • Sanger-Sequenzierung
  • Deletionsscreening
Adrenogenitales Syndrom (AGS) bei 3-beta-Hydroxysteroid-Dehydrogenase-Mangel201810
  • Sanger-Sequenzierung
GATA4
NKX2-5
TBX1
Vorhofseptumdefekt607941
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
DAX1
Nebennierenrinden-Hypoplasie (kongenital)300200
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
KCNV2
Retinal Zapfen Dystrophie 3B610356
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
PLOD2
Bruck-Syndrom609220
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CTSK
Pyknodysostose265800
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
HSPG2
LIFR
Schwartz-Jampel-Syndrom255800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
INSR
DIABETES MELLITUS, INSULIN-RESISTENT, MIT ACANTHOSIS NIGRICANS610549
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CHN1
Stilling-Türk-Duane-Syndrom604356
  • Sanger-Sequenzierung
ROR2
Robinow-Syndrom268310
  • Sanger-Sequenzierung
PLOD1
EHLERS-DANLOS-SYNDROM, TYP VIA225400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LEMD3
BUSCHKE-OLLENDORFF-SYNDROM166700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KIAA1279
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROM609460
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
MPLKIP
TRICHOTHIODYSTROPHIE, NICHT PHOTOSENSITIV 1234050
  • Sanger-Sequenzierung
PCDH19
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR300088
  • Sanger-Sequenzierung
  • Deletionsscreening
SUMF1
MULTIPLE SULFATASE DEFIZIENZ; MSD272200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DHOD1
Miller-Syndrom263750
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
GCK
GLUD1
autosomal dominanter kongenitaler Hyperinsulinismus Typ 3602485
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
MSX1
PAX9
Adontie, Hypodontie604625,100600
  • Sanger-Sequenzierung
  • Deletionsscreening
ADAMTSL2
GELEOPHYSISCHE DYSPLASIE231050
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
GLRA1
GLRB
SLC6A5
HYPEREKPLEXIE, HEREDITÄRE149400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LMX1B
Nagel-Patella-Syndrom161200
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
GNPTAB
MCOLN1
Mukolipidose252600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
IVD
Isovalerianazidämie243500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LHX3
PIT1
PROP1
Hypophysenhormon-Defizienz (partiell)262700, 182230
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CTNS
Cystinose, nephropathisch219800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ASS
Zitrullinämie215700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATP7B
Morbus Wilson277900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ESCO2
Roberts-Syndrom268300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CCDC8
CUL7
3M-Syndrom 1273750
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Glykogenspeicherkrankheit Ia232200
  • Sanger-Sequenzierung
G6PT1
Glykogenspeicherkrankheit Ib232220
  • Sanger-Sequenzierung
G6PT1
Glykogenspeicherkrankheit Ic232240
  • Sanger-Sequenzierung
GAA
Glykogenspeicherkrankheit II232300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Glykogenspeicherkrankheit IV607839
  • Sanger-Sequenzierung
PYGL
PYGM
Glykogenspeicherkrankheit V232600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL11A1
Marshall-Syndrom154780
  • Sanger-Sequenzierung
COL6A1
COL6A2
COL6A3
Bethlem Myopathie158810
  • Sanger-Sequenzierung
  • Deletionsscreening
PHGDH
PHOSPHOGLYCERAT DEHYDROGENASE DEFIZIENZ601815
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CACNA1S
SCN4A
Hyperkaliämische periodische Paralyse Typ 1170500
  • Sanger-Sequenzierung
DYT1
Dystonie (Torsionsdystonie I; autosomal dominant)128100
  • Sanger-Sequenzierung
  • Deletionsscreening
DYT3
LRRK2
SLC6A3
Dystonie-Parkinson-Syndrom314250
  • Sanger-Sequenzierung
GCH1
Dystonie (Dopa-responsive)128230
  • Sanger-Sequenzierung
THAP1
DYT6602629
  • Sanger-Sequenzierung
MR1
Dyskinesie Typ 8118800
  • Sanger-Sequenzierung
SGCE
DYT11 (Myoklonus-Dystonie-Syndrom)159900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATP1A3
DYSTONIA-PARKINSONISMUS, RAPID-ONSET; RDP128235
  • Sanger-Sequenzierung
SLC2A2
FANCONI-BICKEL SYNDROM227810
  • Sanger-Sequenzierung
NPC1
NPC2
Niemann-Pick-Krankheit Typ C1257220
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MYH9
Epstein-Syndrom153650
  • Sanger-Sequenzierung
BSCL2
Berardinelli-Seip-congenitale Lipodystrophie270685
  • Sanger-Sequenzierung
CEP290
Lebersche kongenitale Amaurose611755
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KCNQ2
KCNQ3
Epilepsie (benigne familiäre Neugeborenenkrämpfe)121200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CIAS1
Muckle-Wells-Syndrom191900
  • Sanger-Sequenzierung
SLC5A2
Glukosurie (renale)233100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CACNA1S
RYR1
Maligne Hyperthermie-Prädisposition145600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CAPN3
Muskeldystrophie Gliedergürtel-Typ 2A (autosomal rezessiv)253600
  • Sanger-Sequenzierung
  • Deletionsscreening
KDM6A
KMT2D
Kabuki Syndrom147920
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ADAMTS2
COL1A1
COL1A2
Ehlers-Danlos-Syndrom Typ VII130060
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PGN
Spastische Paraplegie 7607259
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TGFB1
Camurati-Engelmann-Syndrom131300
  • Sanger-Sequenzierung
  • Deletionsscreening
ABCD1
Adrenoleukodystrophie300100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
JAG1
NOTCH2
Alagille-Syndrom118450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NFIX
NSD1
Sotos-Syndrom117550
  • Sanger-Sequenzierung
  • Deletionsscreening
CLCN1
Myotonia congenita Becker255700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FBP1
KHK
Fructoseintoleranz (hereditär)229600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SH3PXD2B
Frank-ter Haar Syndrom249420
  • Sanger-Sequenzierung
  • Deletionsscreening
Mukopolysaccharidose 7253220
  • Sanger-Sequenzierung
  • Deletionsscreening
PCCA
PCCB
PROPIONACIDÄMIE606054
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC4A11
CORNEADYSTROPHIE UND TAUBHEIT217400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FGD1
Aarskog-Scott-Syndrom305400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
STAR
Adrenogenitales Syndrom201710
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
POLG
Alpers-Syndrom203700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MYH9
Alport-like-Syndrom153650
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MYH11
Aortenaneurysma, familiärer thorakaler Typ 4132900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC2A10
Arterial-Tortuosity-Syndrom, ATS208050
  • Sanger-Sequenzierung
NOTCH1
SMAD6
bikuspide Aortenklappe109730
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATM
Ataxia teleangiectasia208900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FOXP3
Immundysregulation, Polyendokrinopathie und Enteropathie, X-chromosomal304790
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NOTCH3
CADASIL125310
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CPT2
Carnitin-Palmitoyl-Transferase II-Mangel255110
  • Sanger-Sequenzierung
RYR1
Central Core Disease of Muscle117000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PPT1
Ceroidlipofuscinose neuronal 1256730
  • Sanger-Sequenzierung
ABHD5
Chanarin-Dorfman-Syndrom275630
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CLN2
Ceroidlipofuscinose neuronal 2204500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CLN3
Ceroidlipofuscinose neuronal 3204200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
VPS13A
Choreoakanthozytose200150
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SETX
Spinocerebelläre Ataxie, rezessiv, Nicht-Friedreich Typ 1606002
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PAX2
Renal Coloboma-Syndrom120330
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CDKL5
PLCB1
Epileptische frühinfantile Enzephalopathie, Typ 2 (EIEE2)300672
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SRCAP
Floating-Harbor Syndrom (FHS)136140
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KAT6B
MED12
GENITOPATELLAR SYNDROM; GTPTS606170
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RECQL2
Werner-Syndrom277700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MCCC1
MCCC2
3-METHYLCROTONYL-CoA CARBOXYLASE DEFIZIENZ210200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
THRB
Schilddrüsenhormon-Resistenz188570
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
F5
Faktor V-Mangel227400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LAMP2
Danon Erkrankung300257
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PDHX
Pyruvat-Dehydrogenase-Komplex-Defizienz312170
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RAB18
RAB3GAP1
RAB3GAP2
Warburg Mikro Syndrom600118
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HEXB
Morbus Sandhoff268800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ASAH1
FARBER LIPOGRANULOMATOSE228000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HLXB9
Currarino Syndrom 176450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ALL1/MLL
Wiedemann-Steiner-Syndrom605130
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AGPS
RHIZOMELE CHONDRODYSPLASIA PUNCTATA, TYP 3600121
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COMP
FGFR3
Achondroplasie100800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COMP
MATN3
Multiple epiphyseale Dysplasie Typ1132400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RBM10
TARP Syndrom311900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SETBP1
Schinzel-Giedion-Syndrom269150
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ANKRD11
KBG Syndrom148050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ASPA
Canavan-Krankheit271900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATL1
SPAST
Spastische Paraplegie 4 (autosomal-dominant)182601
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PIGV
Mabry Syndrom239300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ABCC9
Cantu Syndrom239850
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GJA1
Oculo-dento-digitale Dysplasie164200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CXORF5
Oro-fazio-digitales Syndrom, Typ I311200
  • Sanger-Sequenzierung
  • Deletionsscreening
AMN
CUBN
Imerslund-Gräsbeck-Syndrome261100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DTDST / SLC26A2
FLNB
Atelosteogenesis108720, 256050, 108721
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TCN2
Transcobalamin II Defizienz275350
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TTR
Amyloidose Typ I176300
  • Sanger-Sequenzierung
Faktor VIII-Mangel306700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GNE
Myopathie distale Nonaka605820
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
L2HGDH
L-2-Hydroxyglutaryl-Azidurie236792
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATRX
Alpha-Thalassämie-Retardierungs-Syndrom301040
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NKX2-1
Benigne Chorea118700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MEF2C
Chromosom 5q14.3-Deletionssyndrom; Schwere mentale Retardation613443
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC6A8
Creatin-Defizienz-Syndrom300352
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
REEP1
Distale, hereditäre motorische Neuropathie Typ VB614751
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KRT9
Epidermolytische Palmoplantarkeratose144200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ALDOB
FBP1
Fruktose-Intoleranz (hereditär)229600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Glutarazidurie Typ I231670
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CTSA
Galaktosialidose256540
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MTR
MTRR
Methylcobalamine Defizienz250940
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CYBA
CYBB
X-chromosomal rezessive chronische Granulomatose306400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MFN2
Neuropathie (hereditär motorisch-sensorisch) Typ 2A2609260
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DYSF
Muskeldystrophie Gliedergürtel-Typ 2B (autosomal rezessiv)253601
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CAV3
Muskeldystrophie Gliedergürtel-Typ 1C607801
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HPSE2
LRIG2
Urofaziales Syndrom236730
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Methylmalonacidurie251000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HMGCL
3-Hydroxy-3-Methylglutarazidurie246450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
OCA2
SLC45A2
TYR
Okulokutaner Albinismus Typ 1203100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TYRP1
Okulokutaner Albinismus Typ 3203290
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SGCD
Muskeldystrophie Gliedergürtel-Typ 2F (autosomal-rezessiv)601287
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SGCA
Muskeldystrophie Gliedergürtel-Typ 2D (autosomal rezessiv)608099
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
POLR3A
POLR3B
Hypomyelinisierende Leukodystrophie607694
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MYH8
Arthrogryposis (multiplexe kongenitale) distal Typ 7158300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Kongenitale kontrakturelle Arachnodaktylie121050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FLNA
Heterotopie (periventrikulär nodulär)300049
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CASK
X-chromosomale geistige Retardierung, Typ Najm300749
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KRT10
KRT2
Epidermolytische Hyperkeratose113800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SNAP29
CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME609528
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ABCC2
Dubin-Johnson-Syndrom237500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HADH
Hyperinsulinämische Hypoglykämie, familiär, Typ 4609975
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AARS
Charcot-Marie-Tooth-Neuropathie (axonal) Typ 2N613287
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ABCA4
Morbus Stargardt248200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ABCC6
Pseudoxanthoma elasticum; PXE264800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ABHD12
Polyneuropathie, Taubheit, Ataxie, Retinitis pigmentosa und Katarakt612674
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACADM
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel201450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Extralangketten-Acyl-CoA-Dehydrogenase-Defizienz201475
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACAT1
Alpha-Methyl-Acetoacetyl-CoA Thiolase-Mangel203750
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACTA2
Aortendissektion, familiärer thorakaler Typ 6611788
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACVRL1
Morbus Osler Typ 2600376
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ADAMTS10
Weill-Marchesani-Syndrom277600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AFG3L2
spinozerebelläre Ataxie Typ 28610246
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
Sjögren-Larsson-Syndrom270200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Epilepsie, Pyridoxin-abhängig; EPD266100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ALG6
CDG-Syndrom Typ Ic603147
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ALPL
Hypophosphatasie241500, 241510, 146300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ALS2
Amyotrophe Lateralsklerose 2 (autosomal-rezessiv) ALS2205100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Gallensäuresynthesedefekt, kongenitaler, Typ 4214950
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AMPD1
Myoadenylat-Desaminase-Mangel102770
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ANO3
zervikale Dystonie615034
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ANO5
Muskeldystrophie Typ Miyoshi 3613319
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ANTXR2
hyaline juvenile Fibromatose228600
  • Sanger-Sequenzierung
  • Deletionsscreening
Hermansky-Pudlak-Syndrom Typ 2608233
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
APP
PSEN1
PSEN2
Alzheimer Krankheit, early-onset familiär104300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
APTX
SETX
Ataxie mit okulomotorischer Apraxie und Hypoalbuminämie208920
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AQP2
Diabetes insipidus (nephrogen; autosomal dominant)125800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Periventrikuläre noduläre Heterotopien, autosomal rezessiv608097
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ARHGEF9
Hyperekplexie - Epilepsie300607
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ARX
Corpus callosum-Agenesie mit Genitalanomalien300004
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Microzephalie, autosomal rezessiv, Typ 5608716
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATL1
Spastische Paraplegie, autosomal-dominante, Typ 3182600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
APT13A2
Kufor-Rakeb Syndrom606693
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATP2A1
Brody-Myopathie601003
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATP2A2
Morbus Darier124400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATXN8OS
spinozerebelläre Ataxie Typ 8608768
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AVP
Diabetes insipidus centralis125700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AZF
Azoospermie / Oligozoospermie415000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BARD1
hereditäres Brust- und Ovarialkrebssyndrom114480
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
BCHE
Butyrylcholinesterase-Defekt177400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ABCA4
BEST1
Retinitis pigmentosa268000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BTD
Biotinidase-Mangel253260
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
C7orf10
Glutaryl-CoA-Oxidase-Mangel231690
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MPLKIP
BIDS-Syndrom234050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CACNA1A
Spinocerebelläre Ataxie Typ 6183086
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CACNA1C
Brugada-Syndrom601144, 611875, 611876, 6
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CASQ2
RYANODINE RECEPTOR 2
TRDN
Catecholaminerge polymorphe ventrikuläre Tachykardie 1 (2)604772, 611938
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CBS
klassische Homocystinurie236200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CCM2
Angiome; CCM116860
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CDAN1
kongenitale dyserythropoetische Anämie Typ 1224120
  • Sanger-Sequenzierung
  • Deletionsscreening
CDKN1C
Beckwith-Wiedemann-Syndrom130650
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CFTR
Cystische Fibrose219700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CFTR
Kongenitale bilaterale Aplasie des Vas deferens277180
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CFTR
Pankreatitis (hereditär)167800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CHECK2
p53
Li-Fraumeni-Syndrom151623
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CLN6
Ceroidlipofuscinose neuronal 6601780
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CNTNAP2
kortikale Dysplasie - fokales Epilepsie-Syndrom610042
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COG7
CDG-Syndrom Typ IIe608779
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COH1 (VPS13B)
Cohen Syndrom216550
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COLEC11
Kraniofazial-ulnar-renales Syndrom265050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CPS1
Carbamoyl-Phosphat-Synthetase I-Mangel237300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PAPILLON-LEFEVRE SYNDROM245000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CX26
CX30 (GJB2/6)
Schwerhörigkeit sensorineurale (autosomal-rezessiv) Typ I220290
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CYLD
Cylindromatose132700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CYP27A1
Zerebrotendinöse Xanthomatose213700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CYP7B1
SPG5270800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DARS2
Leukoenzephalopathie mit Beteiligung von Hirnstamm/Rückenmark und Laktaterhöhung611105
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DHCR7
Smith-Lemli-Opitz-Syndrom270400
  • Sanger-Sequenzierung
  • Deletionsscreening
DAX1
DHH
OX9
XY-Gonadendysgenesie300018
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DMP1
Rachitis, hypophosphatämische, autosomal-rezessive241520
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DNM2
Charcot-Marie-Tooth-Neuropathie (axonal, Typ 2M), Charcot-Marie-Tooth-Neuropathie (dominant intermediär, Typ B)606482
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DDR2
spondyloepimetaphysäre Dysplasie - kurze Extremitäten - anormale Kalzifizierung271665
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DHOD1
akrofaziale postaxiale Dysostose263750
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DKC1
Dyskeratosis congenita305000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MLPH
MYO5A
RAB27A
Griscelli Syndrom214450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DNAJC5
CLN4B-Krankheit162350
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DNASE1
systemischer Lupus erythematodes152700
  • Sanger-Sequenzierung
  • Deletionsscreening
DSG1
KERATOSIS PALMOPLANTARIS STRIATA148700
  • Sanger-Sequenzierung
  • Deletionsscreening
DTNA
isolierte linksventrikuläre Non-Compaction-Kardiomyopathie604169
  • Sanger-Sequenzierung
  • Deletionsscreening
PRKRA
Dystonie 16612067
  • Sanger-Sequenzierung
  • Deletionsscreening
TUBB4A
primäre Dystonie Typ DYT4128101
  • Sanger-Sequenzierung
  • Deletionsscreening
GNAL
Dystonie 25615073
  • Sanger-Sequenzierung
  • Deletionsscreening
EFEMP1
familiäre Drusen126600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
EFHC1
juvenile Myoklonus-Epilepsie254770
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
EGFR
Lunge Krebs211980
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Elastin
Williams-Beuren-Syndrom194050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
EMX2
Schizencephalie269160
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACVRL1
ENG
Morbus Osler Typ 1187300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ETFA
ETFB
ETFDH
Multipler Acyl-CoA-Dehydrogenase-Mangel (MADD)231680
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
F2
Faktor II-Mangel176930
  • Sanger-Sequenzierung
  • Deletionsscreening
F9
Faktor IX-Mangel306900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FA2H
Spastische Paraplegie, autosomal-dominante, Typ 35612319
  • Sanger-Sequenzierung
  • Deletionsscreening
FAH
Tyrosinämie Typ 1276700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FANCA
Fanconi-Anämie227650
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FGF10
FGFR2
FGFR3
Lakrimo-aurikulo-dento-digitales Syndrom149730
  • Sanger-Sequenzierung
  • Deletionsscreening
FH
Fumarase-Mangel606812
  • Sanger-Sequenzierung
  • Deletionsscreening
C9ORF72
FIG4
Amyotrophe Lateralsklerose 1 (familiär)105400, 615911, 616439
  • Sanger-Sequenzierung
  • Deletionsscreening
FKBP10
Osteogenesis imperfecta Typ VI610968
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FKRP
LMNA
Kongenitale Muskeldystrophie#606612
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FCMD
Muskeldystrophie Fukuyama kongenitale253800
  • Sanger-Sequenzierung
  • Deletionsscreening
FGF23
Hypophosphatämie (autosomal dominant)193100
  • Sanger-Sequenzierung
  • Deletionsscreening
FGF14
SCA27609307
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FMR1
Fra(X)-Syndrom309550
  • Sanger-Sequenzierung
  • Deletionsscreening
FRMD7
X-chromosomaler Nystagmus310700
  • Sanger-Sequenzierung
  • Deletionsscreening
FTL
Hyperferritinämie-Katarakt-Syndrom600886
  • Sanger-Sequenzierung
  • Deletionsscreening
Fukosidose230000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GALT
Galaktosämie230400
  • Sanger-Sequenzierung
  • Deletionsscreening
Morbus Gaucher Typ I230800
  • Sanger-Sequenzierung
GCK
Maturity Onset Diabetes of the Young Type II125851
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
EIF2AK3
Wolcott-Rallison-Syndrom226980
  • Sanger-Sequenzierung
  • Deletionsscreening
EZH2
Weaver-Syndrom277590
  • Sanger-Sequenzierung
  • Deletionsscreening
FAM123B
Osteopathia striata - kraniale Sklerose300373
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FOXF1
kongenitale alveolar-kapilläre Dysplasie265380
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FUZ
VANGL1
Neuralrohrdefekte182940
  • Sanger-Sequenzierung
  • Deletionsscreening
GAMT
Guanidinoacetat-Methyltransferase-Mangel612736
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GFAP
Alexander-Krankheit203450
  • Sanger-Sequenzierung
  • Deletionsscreening
GJA12
Pelizeaus-Merzbacher ähnliche Erkrankung 1608804
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GJA12
Lymphödem Typ I153100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GP1BA
GP1BB
GP9
Bernard-Soulier-Syndrom231200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GPHN
Molybdän-Cofaktor-Mangel252150
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GPR143
Okulärer Albinismus Typ I300500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CEP290
GUCY2D
Lebersche kongenitale Amaurose204000, 617781, 617023
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Hämochromatose (juvenile)602390, 615517
  • Sanger-Sequenzierung
  • Deletionsscreening
HBB
Beta-Thalassämie141900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HBB
Sichelzellenanämie603903
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Tay-Sachs-Krankheit272800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HFE
Hämochromatose Typ 1235200
  • Sanger-Sequenzierung
  • Deletionsscreening
Porphyrie (akut intermittierend)176000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HPRT1
Lesch-Nyhan-Syndrom308000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Costello-Syndrom218040
  • Sanger-Sequenzierung
  • Deletionsscreening
HSPB1
Charcot-Marie-Tooth-Neuropathie (axonal) Typ 2F606595
  • Sanger-Sequenzierung
  • Deletionsscreening
HSPB8
Charcot-Marie-Tooth-Neuropathie, axonal, Typ 2L608673
  • Sanger-Sequenzierung
  • Deletionsscreening
HSPD1
Spastische Paraparese Typ 13605280
  • Sanger-Sequenzierung
  • Deletionsscreening
HTRA1
Cerebrale autosomal rezessive Arteriopathie mit subkortikalen Infarkten und Leukoenzephalopathie600142
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HTT
TBP
Chorea Huntington143100
  • Sanger-Sequenzierung
  • Deletionsscreening
IGF1R
IGF1-Resistenz270450
  • Sanger-Sequenzierung
  • Deletionsscreening
IGHMBP2
Spinale Muskelatrophie mit Atemnot; Typ 1604320
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
IKBKAP
Riley-Day-Syndrom223900
  • Sanger-Sequenzierung
  • Deletionsscreening
ITPR1
SCA15606658
  • Sanger-Sequenzierung
  • Deletionsscreening
JAK2
Thrombozythämie, essentielle187950
  • Sanger-Sequenzierung
  • Deletionsscreening
JAK2
Polycythämia vera263300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CACNA1A
KCNA1
SLC1A3
Episodische Ataxie 1; Episodische Ataxie mit Myokymie160120
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KIAA0196
Spastische Paraparese 8 (SPG8)603563
  • Sanger-Sequenzierung
  • Deletionsscreening
Spastische Paraparese Typ 11604360
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KIF5A
Spastische Paraparese Typ 10604187
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KIT
Mastzell-Erkrankung154800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
L1CAM
Hydrozephalus (X-chromosomal)307000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LIPA
Wolman-Krankheit278000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LMNB1
Demyelinisierende Leukodystrophie, autosomal-dominant, im Erwachsenenalter beginnend (ADLD)169500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LYST
Chediak-Higashi-Syndrom214500
  • Sanger-Sequenzierung
  • Deletionsscreening
Mittelmeerfieber (familiär)249100
  • Sanger-Sequenzierung
  • Deletionsscreening
RET
Neoplasie (multiple endokrine) Typ 2B162300
  • Sanger-Sequenzierung
  • Deletionsscreening
MID1
Opitz GBBB Syndrom300000, 145410
  • Sanger-Sequenzierung
  • Deletionsscreening
MITF
TYR
Waardenburg-Syndrom Typ II mit okulärem Albinismus (digen)103470
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BBS6
McKusick-Kaufman-Syndrom236700
  • Sanger-Sequenzierung
  • Deletionsscreening
MT-ND1
MT-ND6
MELAS-Syndrom540000
  • Sanger-Sequenzierung
  • Deletionsscreening
MT-ND6
Leigh-Syndrom256000
  • Sanger-Sequenzierung
  • Deletionsscreening
MT-ND1
MT-ND4
MT-ND6
Lebersche hereditäre Optikusneuropathie535000
  • Sanger-Sequenzierung
  • Deletionsscreening
MYBPC1
Arthrogryposis (multiplexe kongenitale) distal Typ 1B614335
  • Sanger-Sequenzierung
  • Deletionsscreening
NIPA1
Spastische Paraparese 6 (SPG6)600363
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NKX2-1
Choreoathetose, kongenitaler Hypothyreoidismus u. neonatale Ateminsuffizienz610978
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NOG
Symphalangismus, proximal 185800
  • Sanger-Sequenzierung
  • Deletionsscreening
NPHP1
Nephronophthise 1256100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NPHS1
WT1
Nephrose 1 (kongenitaler finnischer Typ)256300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NPHS2
Nephrotisches Syndrom (steroid-resistentes)604766
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
OCA2
Okulokutaner Albinismus Typ 2203200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Optikus-Atrophie165300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
OPTN
Kongenitales Glaukom137760
  • Sanger-Sequenzierung
  • Deletionsscreening
OTC
Ornithin-Transcarbamylase-Mangel311250
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PABN1
Muskeldystrophie (okulo-pharyngeal)164300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PAX3
Waardenburg-Syndrom Typ I193500
  • Sanger-Sequenzierung
  • Deletionsscreening
PDE4D
Akrodysostose Typ 2, mit oder ohne Hormonresistenz614613
  • Sanger-Sequenzierung
  • Deletionsscreening
PDGFRA
Stroma-Tumor gastrointestinaler606764
  • Sanger-Sequenzierung
  • Deletionsscreening
SLC26A4
Pendred-Syndrom274600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Hypophosphatämie (X-chromosomal)307800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PKHD1
Polyzystische Nierenerkrankungen (autosomal rezessiv)263200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PLP1
Pelizaeus-Merzbacher-Krankheit312080
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
POLG2
Ophthalmoplegie (progressiv extern, autosomal dominant, Typ 4)610131
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
POMGNT1
Muskel-Auge-Gehirn-Krankheit253280
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
POMGNT1
POMT1
POMT2
Walker-Warburg-Syndrom236670, 615041, 615249
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PORCN
Fokale dermale Hypoplasie305600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRF1
Hämophagozytische Lymphohistiozytose267700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRKAR1A
Carney-Komplex Typ 1160980
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRKCG
SCA14605361
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRNP
Creutzfeldt-Jakob-Krankheit (familiär)123400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRNP
Alzheimer-Demenz early onset familiär605055
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRPS1
Neuropathie (Charlot-Marie-Tooth) Typ X5311070
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PTCH
Prädisposition für Basalzell-Karzinom 1 (BCC1)605462
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
QDPR
Hyperphenylalaninämie, BH4-deficient C261630
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RAI1
Smith-Magenis-Syndrom182290
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RAI1
Potocki-Lupski-Syndrom610883
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RPS6KA3
Coffin-Lowry-Syndrom303600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RUNX2
Dysplasie cleidocraniale119600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SACS
Autosomal rezessive spastische Ataxie Charlevoix-Saguenay270550
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SBDS
Shwachman-Bodian-Diamond-Syndrom260400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATXN8OS
SYNE1
Spinocerebelläre Ataxie Typ 8610743
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SCNN1B
SCNN1G
Liddle-Syndrom177200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SDHB
SDHC
SDHD
Paragangliom (familiär nichtchromaffin) Typ 1168000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PI
Alpha-1-Antitrypsin-Mangel107400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SGCB
Muskeldystrophie Gliedergürtel-Typ 2E (autosomal-rezessiv)604286
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Muskeldystrophie Gliedergürtel-Typ 2C (autosomal-rezessiv)253700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC25A13
Citrullinämie Typ II603471
  • Sanger-Sequenzierung
  • Deletionsscreening
SLC39A4
Acrodermatitis enteropathica, Zink-Mangel-Typ201100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC3A1
Cystinurie220100
  • Sanger-Sequenzierung
  • Deletionsscreening
SLC11A3
Hämochromatose Typ 4606069
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC6A19
Hartnup-Krankheit234500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SMAD3
Loeys-Dietz-Syndrom Typ 1C, LDS1C613795
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DUX4
SMN1
Spinale Muskelatrophie Typ I253300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SMPD1
Niemann-Pick-Krankheit Typ A257200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GIF
Intrinsic-Faktor-Mangel261000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GLMN
Glomuvenöse Malformation; GVM138000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GRIN2B
autosomal-dominante nicht-syndromale Intelligenzminderung613970
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Glykogensynthetase-Mangel240600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HARS2
LARS2
Perrault-Syndrom614926, 615300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Mikrodeletionssyndrom 2q37600430
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HAMP
Hemojuvelin
Hämochromatose Typ 2602390
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HARS2
HSD17B4
Perrault-Syndrom233400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HYLS1
Hydrolethalus-Syndrom236680
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SOX10
Waardenburg-Syndrom Typ 4613266
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SOX3
X-chromosomale geistige Retardierung mit Wachstumshormon-Mangel300123
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ZFYVE26
Spastische Paraparese 15 (SPG15)270700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
REEP1
Spastische Paraparese Typ 31610250
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ZFVE27
Spastische Paraparese 33 (SPG33)610244
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SPR
Dopa-Responsive Dyst. due to Sepiapterin Red. Deficiency182125
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
STK11
Peutz-Jeghers-Syndrom175200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
STRC
Schwerhörigkeit, autosomal-rezessiv600060, 601868, 609706
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HNF1A
Maturity Onset Diabetes of the Young Type III600496
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TCF4
Pitt-Hopkins Syndrom610954
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TFR2
Hämochromatose Typ 3604250
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Mohr-Tranebjaerg-Syndrom304700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TNFRSF1A
Fieber periodisches (familiär; autosomal dominant)142680
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TSC1
TSC2
Tuberöse Sklerose 1191100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TTPA
Friedreich-(oder \"ähnliche\")-Ataxie mit Vitamin E-Mangel277460
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
UGT1A1
Crigler-Najjar-Syndrom218800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
UGT1A1
Morbus Meulengracht143500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
UPF3B
X-gebundene mentale Retardierung, Syndrom 14300676
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
VDR
Vitamin D-resistente Rachitis Typ IIA277440
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
VHL
Von Hippel-Lindau-Syndrom193300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
VLDLR
Cerebelläre Ataxie, mentale Retardierung und Dysäquilibrium-Syndrom 1224050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
VRK1
Pontozerebelläre Hypoplasie Typ 1607596
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ZMPSTE24
Dermopathie, restriktiv letal275210
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CNBP
Myotone Dystrophie Typ 2602668
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LDHA
Laktat-Dehydrogenase M-Untereinheit-Mangel612933
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HES7
LFNG
autosomal-rezessive spondylokostale Dysostose609813, 608059
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LHX1
MURCS-Assoziation601076
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LIPN
lamelläre Ichthyose613943
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LTBP3
Hypodontie613097
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MAOA
Monoamino-Oxidase-A-Mangel300615
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MASP1
Kraniofazial-ulnar-renales Syndrom257920
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Spastische Paraparese Typ 21248900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MATR3
distale Myopathie mit Stimmbandschwäche606070
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MC1R
Okulokutaner Albinismus Typ 2203200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MESP2
autosomal-rezessive spondylokostale Dysostose608681
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MMACHC
MMADHC
Methylmalonazidurie - Homocystinurie Typ cbl C277400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MPI
PMM2
CDG-Syndrom Typ Ib, 1a602579, 212065
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ALK
NEUROBLASTOM, ANLAGE ZU, 3; NBLST3613014
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CCBE1
FAT4
FLT4
HENNEKAM LYMPHANGIEKTASIE-LYMPHÖDEM SYNDROM235510
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CSF1R
Leukoenzephalopathie mit neuroaxonalen Spheroiden221820
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Opitz C211750
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PHF6
Borjeson-Forssman-Lehmann-Syndrom301900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PIK3R1
SHORT Syndrom269880
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BAG3
Myofibrilläre Myopathie (2,4,5)608810, 609524, 609452
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LDB3
Myofibrilläre Myopathie (ZASPopathie)609452
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RBM8A
Thrombozytopenia Absent Radius Syndrom274000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACTA1
SEPN1
TPM3
Kongenitale Myopathie (Fasertyp-Disproportion); dominant255310, 608358
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ADA
Immunodefizienz, schwere kombinierte102700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MTHFR
Hyperhomozysteinämie236250
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NELF
SEMA3A
WDR11
Kallmann-Syndrom 1308700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NEU1
Sialidose256550
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NHP2
Dyskeratosis congenita613987
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NHS
Nance-Horan-Syndrom302350
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NLGN3
NLGN4
Asperger-Syndrom300494
  • Sanger-Sequenzierung
  • Deletionsscreening
NRXN1
Autismus209850
  • Sanger-Sequenzierung
  • Deletionsscreening
Dubowitz-Syndrom611091
  • Sanger-Sequenzierung
  • Deletionsscreening
Isolierter Defekt im Komplex 1 der mitochondrialen Atmungskette252010
  • Sanger-Sequenzierung
  • Deletionsscreening
OBSL1
3M-Syndrom612921
  • Sanger-Sequenzierung
  • Deletionsscreening
PC
Pyruvatcarboxylase Defizienz266150
  • Sanger-Sequenzierung
  • Deletionsscreening
PCBD1
Pterin-4-alpha-Carbinolamin-Dehydratase-Mangel264070
  • Sanger-Sequenzierung
  • Deletionsscreening
PDGFRA
PDGFRB
Leukämie (akute lymphatische)613065
  • Sanger-Sequenzierung
PDYN
Ataxie, spinozerebelläre, Typ 23610245
  • Sanger-Sequenzierung
  • Deletionsscreening
PEX7
PHYH
Refsum-Syndrom614879
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PFKM
Glykogenose Typ 7232800
  • Sanger-Sequenzierung
  • Deletionsscreening
Myopathie durch Phosphoglycerat-Mutase-Mangel261670
  • Sanger-Sequenzierung
  • Deletionsscreening
PHF8
Geistige Retardierung, X-chromosomale, Typ Siderius300263
  • Sanger-Sequenzierung
  • Deletionsscreening
PLEKHG5
Vorderhornerkrankung, autosomal-rezessive, des Kindes611067
  • Sanger-Sequenzierung
  • Deletionsscreening
PNPLA1
Erythrodermie, ichthyosiforme kongenitale, nicht-bullöse Form615024
  • Sanger-Sequenzierung
  • Deletionsscreening
PLPA6
Spastische Paraplegie, autosomal-rezessive, Typ 39612020
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RAB7
Neuropathie (Charlot-Marie-Tooth) Typ 2B600882
  • Sanger-Sequenzierung
  • Deletionsscreening
RAG1
Omenn-Syndrom603554
  • Sanger-Sequenzierung
  • Deletionsscreening
BLM
Bloom Syndrom210900
  • Sanger-Sequenzierung
  • Deletionsscreening
RNASET2
Zystische Leukoenzephalopathie ohne Megalenzephalie612951
  • Sanger-Sequenzierung
  • Deletionsscreening
RPIA
Ribose-5-Phosphat-Isomerase Mangel608611
  • Sanger-Sequenzierung
  • Deletionsscreening
RTN2
Spastische Paraplegie, autosomal-dominante, Typ 12604805
  • Sanger-Sequenzierung
  • Deletionsscreening
SEC23B
Anämie, dyserythropoetische, kongenitale, Typ 2224100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SECISBP2
Hyperdejodierungssyndrom609698
  • Sanger-Sequenzierung
  • Deletionsscreening
SF3B4
Nager-Syndrom154400
  • Sanger-Sequenzierung
  • Deletionsscreening
SKIV2L
Tricho-hepato-enterisches Syndrom614602
  • Sanger-Sequenzierung
  • Deletionsscreening
SLC16A2
Allan-Herndon-Dudley-Syndrom300523
  • Sanger-Sequenzierung
  • Deletionsscreening
SLC33A1
Kongenitale Katarakt-Schwerhörigkeit-Entwicklungsverzögerung-Syndrom614482
  • Sanger-Sequenzierung
  • Deletionsscreening
SLC35C1
Leukozytenadhäsionsdefekt Typ II266265
  • Sanger-Sequenzierung
  • Deletionsscreening
SLITRK1
Tourette-Syndrom137580
  • Sanger-Sequenzierung
  • Deletionsscreening
FHL1
SYNE2
TF
Emery-Dreifuss Muskeldystrophie, autosomal-dominante612999, 300696
  • Sanger-Sequenzierung
  • Deletionsscreening
TGFBI
Reis-Bücklers-Hornhautdystrophie608470
  • Sanger-Sequenzierung
  • Deletionsscreening
UPK3A
Renale Adysplasie191830
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
VMA21
Myopathie mit exzessiver Autophagie, X-chromosomal310440
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Mowat-Wilson-Syndrom235730
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
  • quantitative PCR (realtime PCR)
ZNF469
Brittle cornea-Syndrom229200
  • Sanger-Sequenzierung
  • Deletionsscreening
AGXT
Hyperoxalurie Typ 1259900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
APOB
LDLR
PCSK9
Hyperlipoproteinämie (familiär)143890, 603776
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
BIN1
Myotubuläre Myopathie (autosomal rezessiv)255200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
CC2D2A
Meckel-Gruber-Syndrom249000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
DLL3
Spondylocostale Dysostose277300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
ECM1
Lipoidproteinose247100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
GNAS
Osteodystrophie (Albright; hereditär)103580
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
GRHPR
Hyperoxalurie type II260000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
CARD15
Morbus Crohn266600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
NR3C2
Pseudohypoaldosteronismus (autosomal dominant)177735
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
PTH1R
Metaphyseale chondrodysplasie, Typ Murk-Jansen156400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
SLC12A3
GITELMAN-SYNDROM263800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
SLC6A2
Atransferrinämie209300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
MEM67/MKS3
Joubert Syndrom608629, 610688
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
PHGDH
Neu-Laxova-Syndrome256520
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
WNT5A
Robinow-Syndrom (autosomal dominant)180700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
C1NH
HANE
Angioödem (hereditäres)106100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MMACHC
THBD
Hämolytisch-urämisches Syndrom235400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DICER1
Pleuropulmonales Blastom601200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACVR1
Fibrodysplasia ossificans progressiva (FOP) 135100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
EPG5
Vici Sndrom242840
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SALL2
Kolobom, okulär, autosomal rezessiv216820
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PAX8
TG
TPO
Hypothyreose, kongenital274500, 218700, 274700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CLCNKB
Klassisches Bartter Syndrom607364
  • Sanger-Sequenzierung
  • Deletionsscreening
KCNJ1
Antenatales Bartter Syndrom Typ 2241200
  • Sanger-Sequenzierung
  • Deletionsscreening
SNX14
Syndromale Form von cerebellärer Atrophie und Lysosom-Autophagosom Dysfunktion999999
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HEPACAM
MLC1
Megalencephale Leukodystrophie mit subkortikalen Zysten604004
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BEST1
CNNM4
Vitreoretinochoroidopathie und Mikrokornea - Zapfen-Stäbchen-Dystrophie - Katarakt - posteriores Staphylom193220
  • Sanger-Sequenzierung
  • Deletionsscreening
AGGF1
RASA1
Kapilläre Malformationen-Arteriovenöse Malformationen608354
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening

Panels

Gen Name Kategorie Schlagworte/Indikation
LEP
LEPR
MC3R
MC4R
POMC
... (6)
Imported from Diagnostics
GABR3
MEF2C
SLC9A6
SNRPN
Imported from Diagnostics
AN1
COL1A1
COL1A2
Imported from Diagnostics
MYH3
PIEZO2
TNNI2
TNNT3
TPM2
Imported from Diagnostics
ATM
BRCA 1
BRCA 2
BRIP1
CDH1
... (12)
Imported from Diagnostics
HDAC8
NIPBL
RAD21
SMC1A
SMC3
Imported from Diagnostics
DGCR2
DGSI
TBX1
Imported from Diagnostics
ED1
EDAR
EDARADD
WNT10A
Imported from Diagnostics
CHRNA2
CHRNA3
CHRNA4
CHRNA5
CHRNB2
... (6)
Imported from Diagnostics
C19orf12
PANK2
PLA2G6
WDR45
Imported from Diagnostics
ABCA12
ALOX12B
ALOXE3
CYP4F22
NIPAL4
... (6)
Imported from Diagnostics
ACTC1
LMNA
MYH7
PLN
TCAP
... (8)
Imported from Diagnostics
ACTC1
DES
MYBPC3
MYH7
PRKAG2
... (9)
Imported from Diagnostics
MLH1
MLH3
MSH2
MSH6
PIK3CA
... (6)
Imported from Diagnostics
ACTA2
ADAMTSL4
FBN1
MYH11
MYLK
... (11)
Imported from Diagnostics
POLG
RRM2B
SUCLA2
TK2
Imported from Diagnostics
Cx32-GJB1
ECEL1
MFN1
MPZ
PMP22
Imported from Diagnostics
Cx32-GJB1
ECEL1
GARS
GDAP1
KIF1B
... (8)
Imported from Diagnostics
DJ1
LRRK2
PARK2
PINK1
SNCA
... (6)
Imported from Diagnostics
COL11A1
COL11A2
COL2A1
COl9a1
COL9A2
Imported from Diagnostics
BRAF
CBL
KRAS
NRAS
PTPN11
... (9)
Imported from Diagnostics
SMAD3
TGFB2
TGFB3
TGFBR1
TGFBR2
Imported from Diagnostics
CHD7
FGF8
FGFR1
PROK2
PROKR2
Imported from Diagnostics
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
Imported from Diagnostics
ALMS1
BBS1
BBS10
BBS12
BBS2
... (10)
Imported from Diagnostics
GABRD
GABRG2
SCN1A
SCN1B
SCN2A
Imported from Diagnostics
ADAR
ATRIP
RNASEH2A
RNASEH2B
RNASEH2C
... (6)
Imported from Diagnostics
DES
DSC2
DSG2
DSP
JUP
... (7)
Imported from Diagnostics
ACTA1
CFL2
NEB
TNNT1
TPM2
Imported from Diagnostics
ABCC8
GCK
GLUD1
HNF4A
KCNJ11
Imported from Diagnostics
BSND
CASR
CLCNKA
CLCNKB
KCNJ1
... (7)
Imported from Diagnostics
BRAF
KRAS
MAP2K1
MAP2K2
Imported from Diagnostics
CDKL5
CHD2
GABRG2
PNPO
SCN1A
... (9)
Imported from Diagnostics
BCKDHA
BCKDHB
BCKDK
DBT
DLD
... (6)
Imported from Diagnostics
CRYBA4
HCCS
PITX3
RAX
SIX6
... (7)
Imported from Diagnostics
CHRNE
CHRNG
COLQ
DOK7
RAPSN
Imported from Diagnostics
PEX1
PEX10
PEX12
PEX2
PEX26
... (7)
Imported from Diagnostics
CDK5RAP2
CENPJ
MCPH1
STIL
WDR62
Imported from Diagnostics
AN2
CYP1B1
FOXC1
PITX2
Imported from Diagnostics
AXIN2
MSX1
PAX9
PTH1R
WNT10A
Imported from Diagnostics
EHMT1
KMT2C
MBD5
NR1I3
SMARCB1
Imported from Diagnostics
AKAP9
ANK2
CACNA1C
CAV3
KCNJ2
... (10)
Imported from Diagnostics
CHAT
CHRNB1
CHRNE
COLQ
MUSK
... (6)
Imported from Diagnostics
CEL
GCK
HNF1A
HNF1B
HNF4A
... (10)
Imported from Diagnostics
BSCL2
Cx32-GJB1
DNM2
ECEL1
FIG4
... (25)
Imported from Diagnostics
ATXN1
ATXN2
CACNA1A
ITPR1
SCA18
... (8)
Imported from Diagnostics
AARS2
ADCK3
COQ2
COQ9
PDSS1
... (6)
Imported from Diagnostics
HESX1
LHX3
PIT1
PROP1
Imported from Diagnostics
PHKA1
PHKA2
PHKB
PHKG2
Imported from Diagnostics
ARHGAP31
DLL4
DOCK6
EOGT
RBPJ
Imported from Diagnostics
DKC1
TERC
TERT
TINF2
Imported from Diagnostics
KRT16
KRT17
KRT6A
KRT6B
Imported from Diagnostics
KIF2A
KIF5C
LAMC3
TUBG
Imported from Diagnostics

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