Einrichtung

Center for Human Genetics and Prevention Stuttgart

Reinsburgstr. 13
70178 Stuttgart
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Dr. med. Robert Hering

Kategorisierung

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

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Genetische Beratung

Allgemeine Anmeldung, Sekretariat

Diagnosen

Gen Krankheit OMIM Methode
CYP21A2
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY201910, 202110
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
AR
ANDROGEN INSENSITIVITY SYNDROME; AIS300068
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PTCH
PTCH2
SUFU
BASAL CELL NEVUS SYNDROME; BCNS109400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ERCC6
ERCC8
COCKAYNE SYNDROME TYPE A, ~B216400, 133540
  • Sanger-Sequenzierung
CFTR
CYSTIC FIBROSIS; CF219700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GJB2
GJB6
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1220290
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FABRY DISEASE301500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CDH1
GASTRIC CANCER137215
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HRPT2
HYPERPARATHYROIDISM 2145001
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FLG
Ichtyosis146700
  • Sanger-Sequenzierung
IKBKG
INCONTINENTIA PIGMENTI; IP308300
  • Sanger-Sequenzierung
BMPR1A
ENG
MADH4
Juvenile Polyposis / Hereditary Hemorrhagic Telangiectasia Syndrome175050, 615506, 174900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
RNASET2
LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY612951
  • Sanger-Sequenzierung
CHECK2
p53
LI-FRAUMENI SYNDROME 1; LFS1151623
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KCNH2
KCNQ1
SCN5A
Long QT Syndrome192500, 611820, 600919, 6
  • Sanger-Sequenzierung
CDKN2A
MELANOMA-PANCREATIC CANCER SYNDROME606719
  • Sanger-Sequenzierung
FH
Multiple cutaneous and uterine myomata 1150800
  • Sanger-Sequenzierung
CDKN1B
MULTIPLE ENDOCRINE NEOPLASIA TYPE IV610755
  • Sanger-Sequenzierung
MEN1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1131100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
NF1
NEUROFIBROMATOSIS, TYPE I; NF1162200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
NF2
NEUROFIBROMATOSIS, TYPE II; NF2101000
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ACVRL1
OSLER-RENDU-WEBER SYNDROME 2; ORW2600376
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KRT1
KRT9
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK144200
  • Sanger-Sequenzierung
SDHC
PARAGANGLIOMAS 3; PGL3605373
  • Sanger-Sequenzierung
STK11
PEUTZ-JEGHERS SYNDROME; PJS175200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
F5
MTHFR
PROS1
PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1173360
  • Sanger-Sequenzierung
JAK2
Polycythämia vera263300
  • Sanger-Sequenzierung
PROC
PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO176860
  • Sanger-Sequenzierung
PROS1
PROTEIN S, ALPHA; PROS1176880
  • Sanger-Sequenzierung
SRD5A2
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH264600
  • Sanger-Sequenzierung
MET
RENAL CELL CARCINOMA, PAPILLARY605074
  • Sanger-Sequenzierung
RETINOBLASTOMA; RB1180200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ENG
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT187300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TSC2
TSC2 GENE; TSC2191092
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TSC1
TSC2
TUBEROUS SCLEROSIS; TS191100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
BAP1
Tumor predisposition syndrome (TPDS)614327
  • Sanger-Sequenzierung
IRF6
VAN DER WOUDE SYNDROME; VWS119300, 606713
  • Sanger-Sequenzierung
ATP7B
WILSON DISEASE277900
  • Sanger-Sequenzierung

Panels

Gen Name Kategorie Schlagworte/Indikation
APC
BMPR1A
ENG
MADH4
MUTYH
Imported from Diagnostics
MLH1
MSH2
MSH6
PIK3CA
PMS2
... (6)
Imported from Diagnostics
AKT1
PIK3CA
PTEN
SDHB
SDHD
Imported from Diagnostics
BRCA1
BRCA2
CDH1
CHECK2
p53
... (9)
Imported from Diagnostics
ACTA2
FBN1
MYH11
MYLK
TGFBR1
... (6)
Imported from Diagnostics
RET
SDHB
SDHC
SDHD
VHL
Imported from Diagnostics

Ringversuche

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