Einrichtung

Institut für Humangenetik

Vesaliusweg 12-14
48149 Münster
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. med. Peter Wieacker

Kategorisierung

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

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

Tumorzytogenetik

Diagnosen

Gen Krankheit OMIM Methode
TRPM6
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG602014
  • Sanger-Sequenzierung
FGFR3
ACHONDROPLASIA; ACH100800
  • Sanger-Sequenzierung
APC
ADENOMATOUS POLYPOSIS OF THE COLON; APC175100
  • Sanger-Sequenzierung
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY202010
  • Sanger-Sequenzierung
CYP21
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY201910, 202110
  • Sanger-Sequenzierung
  • Deletionsscreening
TP63
ADULT SYNDROME103285
  • Sanger-Sequenzierung
AR
ANDROGEN INSENSITIVITY SYNDROME; AIS300068
  • Sanger-Sequenzierung
SNRPN
ANGELMAN SYNDROME; AS105830
  • DNA-Methylierung
TP63
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE106260
  • Sanger-Sequenzierung
SLC12A1
Antenatal Bartter syndrome type 1601678
  • Sanger-Sequenzierung
KCNJ1
Antenatal Bartter syndrome type 2241200
  • Sanger-Sequenzierung
FGFR2
APERT SYNDROME101200
  • Sanger-Sequenzierung
BSND
CLCNKB
Bartter syndrome type 4602522
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES110100
  • Sanger-Sequenzierung
ASXL1
Bohring-Opitz syndrome605039
  • Sanger-Sequenzierung
OX9
CAMPOMELIC DYSPLASIA114290
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DNAI1
CILIARY DYSKINESIA, PRIMARY, 1; CILD1244400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DNAH5
CILIARY DYSKINESIA, PRIMARY, 3; CILD3608644
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DNAH11
CILIARY DYSKINESIA, PRIMARY, 7; CILD7611884
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CLCNKB
Classic Bartter syndrome607364
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
EFNB1
Craniofrontonasal syndrome304110
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MSX2
CRANIOSYNOSTOSIS, TYPE 2604757
  • Sanger-Sequenzierung
CRI-DU-CHAT SYNDROME123450
  • Single copy FISH (kommerzielle Sonden)
FGFR2
FGFR3
CROUZON SYNDROME123500
  • Sanger-Sequenzierung
CFTR
CYSTIC FIBROSIS; CF219700
  • Multiplex-PCR
  • Sanger-Sequenzierung
GJB2
GJB6
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1220290
  • Sanger-Sequenzierung
  • Deletionsscreening
DSPP
DENTINOGENESIS IMPERFECTA125490
  • Sanger-Sequenzierung
INSR
DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS610549
  • Sanger-Sequenzierung
DIGEORGE SYNDROME; DGS188400
  • Single copy FISH (kommerzielle Sonden)
ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2129500
  • Sanger-Sequenzierung
ED1
EDAR
EDARADD
ECTODERMAL DYSPLASIA, ANHIDROTIC224900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3604292
  • Sanger-Sequenzierung
INF2
TRPC6
Focal Segmental Glomerulosclerosis603278, 603965, 613237
  • Sanger-Sequenzierung
FMR1
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1309550
  • PCR-Analyse
  • Southern-Blot
  • DNA-Methylierung
SLC12A3
GITELMAN SYNDROME263800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HBA1
HBA2
HEINZ BODY ANEMIAS140700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HBB
HEMOGLOBIN--BETA LOCUS; HBB141900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HEMOPHILIA A306700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HEMOPHILIA B; HEMB306900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FGFR3
HYPOCHONDROPLASIA; HCH146000
  • Sanger-Sequenzierung
FGFR1
JACKSON-WEISS SYNDROME; JWS123150
  • Sanger-Sequenzierung
FGFR1
PROK2
PROKR2
KALLMANN SYNDROME 1; KAL1308700
  • Sanger-Sequenzierung
DSP
KERATOSIS PALMOPLANTARIS STRIATA612908
  • Sanger-Sequenzierung
SPRED1
LEGIUS SYNDROME611431
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
p53
LI-FRAUMENI SYNDROME 1; LFS1151623
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
LIMB-MAMMARY SYNDROME603543
  • Sanger-Sequenzierung
FBN1
TGFBR1
TGFBR2
MARFAN SYNDROME; MFS154700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
marker chromosomes
  • Single copy FISH (kommerzielle Sonden)
  • WCP (Paint FISH)
  • Interphase FISH
  • SKY
HNF1B
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5604284
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
WNT4
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME277000
  • Sanger-Sequenzierung
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS247200
  • Single copy FISH (kommerzielle Sonden)
FGFR3
MUENKE SYNDROME602849
  • 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
  • Mikrosatellitenanalyse
NPHS1
WT1
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1256300
  • Sanger-Sequenzierung
NPHS2
Nephrotic syndrome, steroid-resistant, autosomal recessive; SRN1600995
  • Sanger-Sequenzierung
PLCE1
NEPHROTIC SYNDROME, TYPE 3; NPHS3610725
  • Sanger-Sequenzierung
NF1
SPRED1
NEUROFIBROMATOSIS, TYPE I; NF1162200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
WNT10A
ODONTOONYCHODERMAL DYSPLASIA257980
  • Sanger-Sequenzierung
CTSC
PAPILLON-LEFEVRE SYNDROME245000
  • Sanger-Sequenzierung
FGFR1
FGFR2
PFEIFFER SYNDROME101600
  • Sanger-Sequenzierung
PAH
PHENYLKETONURIA261600
  • Sanger-Sequenzierung
LAMB2
Pierson Syndrome609049
  • Sanger-Sequenzierung
PKD2
POLYCYSTIC KIDNEY DISEASE173910, 173900, 263200, 6
  • Sanger-Sequenzierung
PKD1
POLYCYSTIC KIDNEY DISEASE 1; PKD1601313
  • Sanger-Sequenzierung
SNRPN
PRADER-WILLI SYNDROME; PWS176270
  • DNA-Methylierung
MECP2
RETT SYNDROME; RTT312750
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FGFR2
TWIST1
SAETHRE-CHOTZEN SYNDROME; SCS101400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
WNT10A
SCHOPF-SCHULZ-PASSARGE SYNDROME224750
  • Sanger-Sequenzierung
RSPO1
SRY
SEX-DETERMINING REGION Y; SRY480000
  • Sanger-Sequenzierung
HBB
SICKLE CELL ANEMIA603903
  • Sanger-Sequenzierung
SMITH-MAGENIS SYNDROME; SMS182290
  • Single copy FISH (kommerzielle Sonden)
AZF
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED415000
  • Multiplex-PCR
SMN1
SMN2
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1253300
  • MLPA (Multiple Ligation-dependent Probe Amplification
TP63
SPLIT-HAND/FOOT MALFORMATION 4; SHFM4605289
  • Sanger-Sequenzierung
FGFR3
THANATOPHORIC DYSPLASIA; TD187600
  • Sanger-Sequenzierung
DLX3
TRICHODENTOOSSEOUS SYNDROME190320
  • Sanger-Sequenzierung
TSC2
TSC2 GENE; TSC2191092
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TSC1
TUBEROUS SCLEROSIS; TS191100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CFTR
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD277180
  • Multiplex-PCR
  • Sanger-Sequenzierung
VHL
VON HIPPEL-LINDAU SYNDROME; VHL193300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
VON WILLEBRAND DISEASE193400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
WILLIAMS-BEUREN SYNDROME; WBS194050
  • Single copy FISH (kommerzielle Sonden)
WOLF-HIRSCHHORN SYNDROME; WHS194190
  • Single copy FISH (kommerzielle Sonden)

Panels

Gen Name Kategorie Schlagworte/Indikation
MLH1
MSH2
MSH6
PMS2
Imported from Diagnostics
DHH
DMRT1
NR5A1
OX9
SRY
Imported from Diagnostics
BRCA1
BRCA2
CHECK2
RAD51C
Imported from Diagnostics
FIGLA
FMR1
FSHR
GDF9
NOBOX
... (7)
Imported from Diagnostics
AXIN2
MSX1
PAX9
PTH1R
WNT10A
Imported from Diagnostics

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006