Einrichtung

MVZ for Human Genetics and Molecular Pathology

Robert-Koch-Str. 10
18059 Rostock
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. Gundula Kadgien

Kategorisierung

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

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Zytogenetik

Tumorzytogenetik

Genetische Beratung

Allgemeine Anmeldung, Sekretariat

Diagnosen

Gen Krankheit OMIM Methode
FGFR3
ACHONDROPLASIA; ACH100800
  • Sanger-Sequenzierung
APC
MUTYH
ADENOMATOUS POLYPOSIS OF THE COLON; APC175100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY202110
  • Sanger-Sequenzierung
CYP21
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY201910, 202110
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ABCD1
ADRENOLEUKODYSTROPHY; ALD300100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FGA
FGB
FGG
AFIBRINOGENEMIA, CONGENITAL202400
  • Sanger-Sequenzierung
ANGELMAN SYNDROME; AS105830
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
C1NH
ANGIOEDEMA, HEREDITARY; HAE106100
  • Sanger-Sequenzierung
TPM2
ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1108120
  • Sanger-Sequenzierung
MYH3
TNNI2
TNNT3
ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B; TYPE 3, 5601680, 114300, 108145
  • Sanger-Sequenzierung
CDKN1C
H19
BECKWITH-WIEDEMANN SYNDROME; BWS130650
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
GP1BA
GP1BB
GP9
Bernard-Soulier- Syndrome231200
  • Sanger-Sequenzierung
ASPA
Canavan disease271900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MFN2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2609260
  • Sanger-Sequenzierung
PMP22
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A118220
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GDAP1
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A214400
  • Sanger-Sequenzierung
Cx32-GJB1
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1302800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CINCA SYNDROME; CINCA607115
  • Sanger-Sequenzierung
Classic Bartter syndrome607364
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COLORECTAL CANCER; CRC114500
  • Mikrosatellitenanalyse
FGFR2
CROUZON SYNDROME123500
  • Sanger-Sequenzierung
GCH1
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION128230
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
THAP1
DYT6602629
  • Sanger-Sequenzierung
F7
FACTOR VII DEFICIENCY227500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MEFV
FAMILIAL MEDITERRANEAN FEVER; FMF249100
  • Sanger-Sequenzierung
KIT
PDGFRA
GASTROINTESTINAL STROMAL TUMOR; GIST606764
  • Sanger-Sequenzierung
SLC2A1
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER138140
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GLYCOGEN STORAGE DISEASE II232300
  • Sanger-Sequenzierung
HAMP
Hemojuvelin
HEMOCHROMATOSIS, JUVENILE; JH602390, 615517
  • Sanger-Sequenzierung
TFR2
HEMOCHROMATOSIS, TYPE 3; HFE3604250
  • Sanger-Sequenzierung
SLC11A3
HEMOCHROMATOSIS, TYPE 4; HFE4606069
  • Sanger-Sequenzierung
HFE
HEMOCHROMATOSIS; HFE235200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HEMOPHILIA A306700
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
F9
HEMOPHILIA B; HEMB306900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
IDUA
Hurler Syndrome607014
  • Sanger-Sequenzierung
MVK
HYPER-IgD SYNDROME; HIDS260920
  • Sanger-Sequenzierung
ALPL
HYPOPHOSPHATASIA, INFANTILE241500
  • Sanger-Sequenzierung
LEUKEMIA (acute lymphoblastic)613065
LEUKEMIA, CHRONIC MYELOID; CML608232
LOWE OCULOCEREBRORENAL SYNDROME; OCRL309000
  • Sanger-Sequenzierung
FBN1
TGFBR1
TGFBR2
MARFAN SYNDROME; MFS154700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HNF4A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1125850
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GCK
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2125851
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3600496
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
IPF1
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4606392
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HNF1B
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5604284
  • Sanger-Sequenzierung
GNPTAB
Mucolipidosis252600
  • Sanger-Sequenzierung
COL1A1
COL1A2
OSTEOGENESIS IMPERFECTA, TYPE I166200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PGN
PARAPLEGIN; SPG7607259
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
LRRK2
PINK1
PARKINSON DISEASE556500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TNFRSF1A
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT142680
  • Sanger-Sequenzierung
PAH
PHENYLKETONURIA261600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PKD1
POLYCYSTIC KIDNEY DISEASE 1; PKD1601313
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PKHD1
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD263200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PRADER-WILLI SYNDROME; PWS176270
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
PROC
PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO176860
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PROS1
PROTEIN S, ALPHA; PROS1176880
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DTDST / SLC26A2
SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2606718
  • Sanger-Sequenzierung
NSD1
SOTOS SYNDROME117550
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KIF5A
Spastic Paraplegia 10604187
  • Sanger-Sequenzierung
KIAA1840
Spastic Paraplegia 11604360
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ZFYVE26
Spastic Paraplegia 15 (SPG15)270700
  • Sanger-Sequenzierung
PLP1
Spastic Paraplegia 2312920
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ATL1
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A182600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SPAST
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4182601
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SETX
SPINOCEREBELLAR ATAXIA RECESSIVE, NON-FRIEDREICH TYPE 1606002
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
VON WILLEBRAND DISEASE193400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification

Panels

Gen Name Kategorie Schlagworte/Indikation
MLH1
MSH2
MSH6
PMS2
COLORECTAL CANCER; CRC
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben

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