Einrichtung

Abteilung für Humangenetik

Universitätsstr. 150
44801 Bochum
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. Jörg T. Epplen

Kategorisierung

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

Akkreditierung

Akkreditiert seit: 27.11.2007
Akkreditierende Organisation: DACH
Beschreibung: Akkreditiert nach DIN EN ISO 15189:2013 im Bereich der Medizinischen Laboratoriumsdiagnostik in den Untersuchungs-
gebieten Molekulare Humangenetik und Zytogenetik

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

Tumorzytogenetik

Genetische Beratung

Diagnosen

Gen Krankheit OMIM Methode
GFAP
ALEXANDER DISEASE203450
  • Sanger-Sequenzierung
SETX
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4602433
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
APTX
SETX
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH208920
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ASPA
Canavan disease271900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
RYR1
Central Core Disease of Muscle117000
  • Sanger-Sequenzierung
PMP22
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A118220
  • MLPA (Multiple Ligation-dependent Probe Amplification
Cx32-GJB1
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1302800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COLORECTAL CANCER; CRC114500
  • Mikrosatellitenanalyse
CYP11B2
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY203400
  • Sanger-Sequenzierung
GJB2
GJB6
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1220290
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ATN1
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA125370
  • Fragmentanalyse
CACNA1A
Episodic Ataxia108500, 160120
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KCNA1
EPISODIC ATAXIA, TYPE 1; EA1160120
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FMR1
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1309550
  • PCR-Analyse
  • Southern-Blot
FRDA
FRIEDREICH ATAXIA 1; FRDA229300
  • Fragmentanalyse
HD
HUNTINGTON DISEASE; HD143100
  • Fragmentanalyse
CYP11B1
CYP11B2
HYPERALDOSTERONISM, FAMILIAL, TYPE I103900
  • PCR-Analyse
ECEL1
MPZ
PMP22
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS145900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SMARCAL1
IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE242900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
VCP
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1167320
  • Sanger-Sequenzierung
ARX
INFANTILE SPASM SYNDROME, X-LINKED308350
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
NTRK1
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA256800
  • Sanger-Sequenzierung
SPRED1
LEGIUS SYNDROME611431
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MYOT
Limb girdle muscular dystrophy type 1A604103
  • Sanger-Sequenzierung
ATXN3
MACHADO-JOSEPH DISEASE; MJD109150
  • Mikrosatellitenanalyse
RYR1
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1145600
  • Sanger-Sequenzierung
  • Deletionsscreening
CACNA1A
MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1141500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TTN
Muscular Dystrophy Limb-Girdle Type 2J608807
  • Sanger-Sequenzierung
LAMA2
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A607855
  • Sanger-Sequenzierung
CAV3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C607801
  • Sanger-Sequenzierung
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C253700
  • Sanger-Sequenzierung
  • Deletionsscreening
SGCA
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D608099
  • Sanger-Sequenzierung
  • Deletionsscreening
SGCB
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E604286
  • Sanger-Sequenzierung
  • Deletionsscreening
SGCD
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F601287
  • Sanger-Sequenzierung
  • Deletionsscreening
NF1
NEUROFIBROMATOSIS, TYPE I; NF1162200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
NF2
NEUROFIBROMATOSIS, TYPE II; NF2101000
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PMP22
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP162500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
NPC1
NPC2
NIEMANN-PICK DISEASE, TYPE C1; NPC1257220
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GNE
NONAKA DISTAL MYOPATHY605820
  • Sanger-Sequenzierung
PANK2
PLA2G6
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN234200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PGN
PARAPLEGIN; SPG7607259
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CDKL5
FOXG1
MECP2
RETT SYNDROME; RTT312750
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HEXB
Sandhoff disease268800
  • Sanger-Sequenzierung
PRKCG
SCA14605361
  • Sanger-Sequenzierung
SACS
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE270550
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KIAA1840
Spastic Paraplegia 11604360
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ATL1
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A182600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
REEP1
Spastic Paraplegia 31610250
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SPAST
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4182601
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TBP
SPINOCEREBELLAR ATAXIA 17; SCA17607136
  • Mikrosatellitenanalyse
ATXN2
SPINOCEREBELLAR ATAXIA 2; SCA2183090
  • Mikrosatellitenanalyse
CACNA1A
SPINOCEREBELLAR ATAXIA 6; SCA6183086
  • Mikrosatellitenanalyse
ATXN7
SPINOCEREBELLAR ATAXIA 7; SCA7164500
  • Mikrosatellitenanalyse
ATXN1
SPINOCEREBELLAR ATAXIA RECESSIVE, NON-FRIEDREICH TYPE 1164400
  • Mikrosatellitenanalyse
GM2A
TAY-SACHS DISEASE, AB VARIANT272750
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HEXA
TAY-SACHS DISEASE; TSD272800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DIO1
DIO2
DIO3
Thyroid hormone metabolism, abnormal609698
  • Sanger-Sequenzierung

Panels

Gen Name Kategorie Schlagworte/Indikation
MLH1
MSH2
MSH6
PMS2
Imported from Diagnostics
ACTA1
CFL2
KLHL40
NEB
TNNT1
... (7)
Imported from Diagnostics
Cx32-GJB1
ECEL1
HSPB1
HSPB8
LITAF
... (9)
Imported from Diagnostics

Ringversuche

Ringversuch Kategorisierung Organisator Jahr