Einrichtung

Institute of Human Genetics

Heinrich-Düker-Weg 12
37073 Göttingen
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. med. Bernd Wollnik

Kategorisierung

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

Akkreditierung

Akkreditiert seit: 22.01.2013
Akkreditierende Organisation: Deutsche Akkreditierungsstelle GmbH (DAkkS)
Beschreibung: DIN EN ISO 15189:2007


vorgelegt der BVDH Geschäftsstelle im Dez. 2014
Datum der letzten Reakkreditierung: 05.01.2015
Reakkreditiert von: aktiviert durch BVDH Geschäftsstelle

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

Genetische Beratung

Diagnosen

Gen Krankheit OMIM Methode
Cx32-GJB1
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1302800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CHD7
CHARGE SYNDROME214800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
F2
COAGULATION FACTOR II; F2176930
  • Sanger-Sequenzierung
MLH1
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2609310
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
  • Deletionsscreening
CFTR
CYSTIC FIBROSIS; CF219700
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
GJB2
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1220290
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TUPLE 1
DIGEORGE SYNDROME; DGS188400
  • Single copy FISH (kommerzielle Sonden)
  • CGH (Comparative Genome Hybridisation)
  • MLPA (Multiple Ligation-dependent Probe Amplification
STXBP1
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY 4612164
  • Sanger-Sequenzierung
  • PCR-Analyse
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
F5
FACTOR V DEFICIENCY227400
  • Sanger-Sequenzierung
FMR1
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1309550
  • Fragmentanalyse
  • PCR-Analyse
  • DNA-Methylierung
FRDA
FRIEDREICH ATAXIA 1; FRDA229300
  • Sanger-Sequenzierung
  • Fragmentanalyse
  • PCR-Analyse
  • quantitative PCR (realtime PCR)
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY236250
  • Sanger-Sequenzierung
HD
HUNTINGTON DISEASE; HD143100
  • Fragmentanalyse
  • PCR-Analyse
  • Southern-Blot
ARX
CDKL5
INFANTILE SPASM SYNDROME, X-LINKED308350
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
MADH4
Juvenile Polyposis / Hereditary Hemorrhagic Telangiectasia Syndrome175050, 615506, 174900
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PTPN11
RAF1
LEOPARD SYNDROME151100
  • Sanger-Sequenzierung
ATXN3
MACHADO-JOSEPH DISEASE; MJD109150
  • Fragmentanalyse
  • PCR-Analyse
MOCS1
MOCS2
MOLYBDENUM COFACTOR DEFICIENCY252150
  • Sanger-Sequenzierung
PMP22
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP162500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ACVRL1
OSLER-RENDU-WEBER SYNDROME 2; ORW2600376
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PI
PROTEASE INHIBITOR 1; PI107400
  • Sanger-Sequenzierung
CDKL5
FOXG1
MECP2
RETT SYNDROME; RTT312750
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AZF
DAZ
RBMY1A1
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED415000
  • Multiplex-PCR
  • PCR-Analyse
TBP
SPINOCEREBELLAR ATAXIA 17; SCA17607136
  • Fragmentanalyse
  • PCR-Analyse
ATXN2
SPINOCEREBELLAR ATAXIA 2; SCA2183090
  • Fragmentanalyse
  • PCR-Analyse
CACNA1A
SPINOCEREBELLAR ATAXIA 6; SCA6183086
  • Fragmentanalyse
  • PCR-Analyse
ATXN7
SPINOCEREBELLAR ATAXIA 7; SCA7164500
  • Fragmentanalyse
  • PCR-Analyse
ATXN1
SPINOCEREBELLAR ATAXIA RECESSIVE, NON-FRIEDREICH TYPE 1164400
  • Fragmentanalyse
  • PCR-Analyse
ENG
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT187300
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
Elastin
GTF2I
LIMK1
RFC2
... (5)
WILLIAMS-BEUREN SYNDROME; WBS194050
  • Single copy FISH (kommerzielle Sonden)
  • CGH (Comparative Genome Hybridisation)
  • quantitative PCR (realtime PCR)

Panels

Gen Name Kategorie Schlagworte/Indikation
APC
ENG
MADH4
MUTYH
Imported from Diagnostics
ACTC1
CSRP3
MYBPC3
MYH7
MYL2
... (10)
Imported from Diagnostics
GARS
GDAP1
HSPB1
MPZ
NEFL
... (6)
Imported from Diagnostics
ECEL1
LITAF
MPZ
NEFL
PMP22
Imported from Diagnostics
MLH1
MSH2
MSH6
PMS2
Imported from Diagnostics
ATL1
KIAA1840
PGN
SPAST
SPG31
Imported from Diagnostics
ATM
BRCA1
BRCA2
CHECK2
PTEN
... (6)
Imported from Diagnostics
KRAS
PTPN11
RAF1
SOS1
Imported from Diagnostics

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006