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
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
  • DNA-Sequenzierung
Größe
keine Angaben
DHH
DMRT1
NR5A1
OX9
SRY
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
BRCA1
BRCA2
CHECK2
RAD51C
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
FIGLA
FMR1
FSHR
GDF9
NOBOX
... (7)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • Southern-Blot
  • DNA-Methylierung
  • DNA-Sequenzierung
Größe
keine Angaben
AXIN2
MSX1
PAX9
PTH1R
WNT10A
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben

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