Einrichtung

Institute of Human Genetics

Sigmund-Freud-Str. 25
53127 Bonn
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. med. Markus M. Nöthen

Kategorisierung

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

Zertifizierung

Zertifiziert seit: 29.11.2011
Zertifizierende Organisation: TÜV Süd
Beschreibung: DIN EN ISO 9001:2008
Datum der letzten Reakkreditierung: 13.03.2012
Reakkreditiert von: TÜV Süd

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

Genetische Beratung

Allgemeine Anmeldung, Sekretariat

Diagnosen

Gen Krankheit OMIM Methode
ANGELMAN SYNDROME; AS105830
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
PTCH
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1605462
  • Sanger-Sequenzierung
PTCH
SUFU
BASAL CELL NEVUS SYNDROME; BCNS109400
  • Sanger-Sequenzierung
  • Deletionsscreening
FLCN
BIRT-HOGG-DUBE SYNDROME135150
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PRKAR1A
CARNEY COMPLEX, TYPE 1; CNC1160980
  • Sanger-Sequenzierung
MFN2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2609260
  • Sanger-Sequenzierung
Cx32-GJB1
MPZ
PMP22
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A118220
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
MPZ
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B118200
  • Sanger-Sequenzierung
Cx32-GJB1
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1302800
  • Sanger-Sequenzierung
PIK3CA
CLOVE syndrome612918
  • Sanger-Sequenzierung
MSH3
MUTYH
NTHL1
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE608456
  • Sanger-Sequenzierung
CRI-DU-CHAT SYNDROME123450
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
CYLD
CYLINDROMATOSIS, FAMILIAL; CYLD132700
  • Sanger-Sequenzierung
  • Deletionsscreening
DIGEORGE SYNDROME; DGS188400
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
EXT1
EXOSTOSES, MULTIPLE, TYPE I133700
  • Sanger-Sequenzierung
  • Deletionsscreening
EXT2
EXOSTOSES, MULTIPLE, TYPE II133701
  • Sanger-Sequenzierung
  • Deletionsscreening
FMR1
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1309550
  • Fragmentanalyse
  • Triplett-Repeat-Expansion
  • Southern-Blot
CDH1
GASTRIC CANCER137215
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KIT
PDGFRA
GASTROINTESTINAL STROMAL TUMOR; GIST606764
  • Sanger-Sequenzierung
  • Deletionsscreening
p53
LI-FRAUMENI SYNDROME 1; LFS1151623
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
APC
PTCH
SUFU
Medulloblastoma, desmoplastic155255
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CDK4
CDKN2A
MELANOMA-PANCREATIC CANCER SYNDROME606719
  • Sanger-Sequenzierung
  • Deletionsscreening
CDK4
CDKN2A
MELANOMA, CUTANEOUS MALIGNANT; CMM155600
  • Sanger-Sequenzierung
  • Deletionsscreening
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS247200
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
MLH1
MSH2
Muir-Torre syndrome; MRTES158320
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FH
Multiple cutaneous and uterine myomata 1150800
  • Sanger-Sequenzierung
  • Deletionsscreening
CDKN1B
MULTIPLE ENDOCRINE NEOPLASIA TYPE IV610755
  • Sanger-Sequenzierung
  • Deletionsscreening
MEN1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1131100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2A171400
  • Sanger-Sequenzierung
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B162300
  • Sanger-Sequenzierung
DMD
MUSCULAR DYSTROPHY, BECKER TYPE; BMD300376
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
DMD
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD310200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ALK
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; NBLST3613014
  • Sanger-Sequenzierung
NF1
NEUROFIBROMATOSIS, TYPE I; NF1162200
  • Sanger-Sequenzierung
  • Deletionsscreening
NF2
NEUROFIBROMATOSIS, TYPE II; NF2101000
  • Sanger-Sequenzierung
  • Deletionsscreening
PMP22
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP162500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
STK11
PEUTZ-JEGHERS SYNDROME; PJS175200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DICER1
Pleuropulmonary blastoma601200
  • Sanger-Sequenzierung
  • Deletionsscreening
BMPR1A
MUTYH
POLYPOSIS, JUVENILE INTESTINAL174900, 132600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
IRF6
POPLITEAL PTERYGIUM SYNDROME; PPS119500
  • Sanger-Sequenzierung
PRADER-WILLI SYNDROME; PWS176270
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
AKT1
PTEN
PROTEUS SYNDROME176920
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
MET
RENAL CELL CARCINOMA, PAPILLARY605074
  • Sanger-Sequenzierung
  • Deletionsscreening
MECP2
RETT SYNDROME; RTT312750
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SMITH-MAGENIS SYNDROME; SMS182290
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
SDHB
SDHD
SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB185470
  • Sanger-Sequenzierung
  • Deletionsscreening
RET
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC155240
  • Sanger-Sequenzierung
TSC1
TSC2
TUBEROUS SCLEROSIS; TS191100
  • Sanger-Sequenzierung
  • Deletionsscreening
BAP1
Tumor predisposition syndrome (TPDS)614327
  • Sanger-Sequenzierung
GRHL3
IRF6
VAN DER WOUDE SYNDROME; VWS119300, 606713
  • Sanger-Sequenzierung
VHL
VON HIPPEL-LINDAU SYNDROME; VHL193300
  • Sanger-Sequenzierung
  • Deletionsscreening
WILLIAMS-BEUREN SYNDROME; WBS194050
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
BRCA2
WT1
WILMS TUMOR 1; WT1194070
  • Sanger-Sequenzierung
  • Deletionsscreening
WOLF-HIRSCHHORN SYNDROME; WHS194190
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification

Panels

Gen Name Kategorie Schlagworte/Indikation
APC
BUB1B
MUTYH
POLD1
POLE
Imported from Diagnostics
AKT1
PIK3CA
PTEN
SDHB
SDHC
... (6)
Imported from Diagnostics
BUB1
BUB1B
BUB3
EPCAM
MLH1
... (13)
Imported from Diagnostics
AKT1
PIK3CA
PTEN
SDHB
SDHC
... (6)
Imported from Diagnostics
BMPR1A
ENG
MADH4
PTEN
Imported from Diagnostics
ATM
BRCA1
BRCA2
CDH1
CHECK2
... (11)
Imported from Diagnostics
MAX
SDHB
SDHC
SDHD
Imported from Diagnostics
MAX
RET
SDHB
SDHC
SDHD
... (7)
Imported from Diagnostics
BRCA1
BRCA2
CHECK2
PALB2
Imported from Diagnostics
LZTR1
NF2
SMARCA4
SMARCB1
Imported from Diagnostics
BMPR1A
MADH4
MUTYH
PTEN
RNF43
Imported from Diagnostics

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2006
  • cytogenetics
BVDH
10115 Berlin
Deutschland
2006
  • cytogenetics
BVDH
10115 Berlin
Deutschland
2006
  • cytogenetics
BVDH
10115 Berlin
Deutschland
2006