Einrichtung

MVZ PD Dr. med. Volkmann & Kollegen

Gerwigstraße 67
76131 Karlsruhe
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Dr. med. Gabriele Schlüter

Kategorisierung

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

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

Tumorzytogenetik

Genetische Beratung

Allgemeine Anmeldung, Sekretariat

Diagnosen

Gen Krankheit OMIM Methode
FGFR3
ACHONDROPLASIA; ACH100800
ACADM
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF201450
ADENOMATOUS POLYPOSIS OF THE COLON; APC175100
APOE
ALZHEIMER DISEASE 2, LATE-ONSET; AD2104310
AR
ANDROGEN INSENSITIVITY SYNDROME; AIS300068
ANGELMAN SYNDROME; AS105830
  • Single copy FISH (kommerzielle Sonden)
APOB
APOLIPOPROTEIN B; APOB107730
APOE
APOLIPOPROTEIN E; APOE107741
BTK
BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK300300
CETP
CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP118470
F2
COAGULATION FACTOR II; F2176930
CPO
COPROPORPHYRIA121300
CRI-DU-CHAT SYNDROME123450
  • Single copy FISH (kommerzielle Sonden)
UGT1A1
CRIGLER-NAJJAR SYNDROME218800
FGFR2
CROUZON SYNDROME123500
CFTR
CYSTIC FIBROSIS; CF219700
ATN1
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA125370
DIGEORGE SYNDROME; DGS188400
  • Single copy FISH (kommerzielle Sonden)
DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD274270
DMPK
DYSTROPHIA MYOTONICA 1160900
FABRY DISEASE301500
F5
FACTOR V DEFICIENCY227400
MEFV
FAMILIAL MEDITERRANEAN FEVER; FMF249100
FMR1
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1309550
FRDA
FRIEDREICH ATAXIA 1; FRDA229300
GAUCHER DISEASE, TYPE I230800
UGT1A1
GILBERT SYNDROME143500
HBA1
HEINZ BODY ANEMIAS140700
HEMOCHROMATOSIS; HFE235200
HBB
HEMOGLOBIN--BETA LOCUS; HBB141900
HbD
HEMOGLOBIN--DELTA LOCUS; HBD142000
HbG1
HEMOGLOBIN, GAMMA A; HBG1142200
HBG2
HEMOGLOBIN, GAMMA G; HBG2142250
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY236250
HD
HUNTINGTON DISEASE; HD143100
HYPERTENSION, ESSENTIAL145500
FGFR3
HYPOCHONDROPLASIA; HCH146000
GP3A
INTEGRIN, BETA-3; ITGB3173470
JACKSON-WEISS SYNDROME; JWS123150
MT-ND1
MT-ND4
MT-ND6
LEBER OPTIC ATROPHY535000
BCR
LEUKEMIA (acute lymphoblastic)613065
ABL
BCR
LEUKEMIA, CHRONIC MYELOID; CML608232
p53
LI-FRAUMENI SYNDROME 1; LFS1151623
ATXN3
MACHADO-JOSEPH DISEASE; MJD109150
RYR1
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1145600
HNF4A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1125850
GCK
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2125851
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3600496
IPF1
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4606392
HNF1B
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5604284
NEUROD1
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VI; MODY6606394
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS247200
  • Single copy FISH (kommerzielle Sonden)
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1131100
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2A171400
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B162300
DMD
MUSCULAR DYSTROPHY, BECKER TYPE; BMD300376
DMD
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD310200
PRSS1
PANCREATITIS, HEREDITARY; PCTT167800
PAI1
PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1173360
Porphyria cutanea tarda176100
PPOX
Porphyria variegata176200
PORPHYRIA, ACUTE INTERMITTENT176000
UROS
PORPHYRIA, CONGENITAL ERYTHROPOIETIC263700
PRADER-WILLI SYNDROME; PWS176270
  • Single copy FISH (kommerzielle Sonden)
PI
PROTEASE INHIBITOR 1; PI107400
PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO176860
PROTOPORPHYRIA, ERYTHROPOIETIC177000
SFTPB
PULMONARY ALVEOLAR PROTEINOSIS265120
SMITH-MAGENIS SYNDROME; SMS182290
  • Single copy FISH (kommerzielle Sonden)
AZF
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED415000
AR
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1313200
ATXN2
SPINOCEREBELLAR ATAXIA 2; SCA2183090
CACNA1A
SPINOCEREBELLAR ATAXIA 6; SCA6183086
ATXN1
SPINOCEREBELLAR ATAXIA RECESSIVE, NON-FRIEDREICH TYPE 1164400
HEXA
TAY-SACHS DISEASE; TSD272800
FGFR3
THANATOPHORIC DYSPLASIA; TD187600
RET
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC155240
CFTR
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD277180
WILLIAMS-BEUREN SYNDROME; WBS194050
  • Single copy FISH (kommerzielle Sonden)
ATP7B
WILSON DISEASE277900
WOLF-HIRSCHHORN SYNDROME; WHS194190
  • Single copy FISH (kommerzielle Sonden)

Panels

Gen Name Kategorie Schlagworte/Indikation

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
DMD/BMD
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008
FISH RV-10 (konstitutionelle FISH-Diagnostik)
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2008
fra(X)-Syndrom
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008
AGS
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
Chorea Huntington
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
CMT/HMSN
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
FRDA
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
HNPCC - Lynch Syndrom
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
Men2a/b
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
Myotone Dystrophie Typ 1
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
Prader-Willi- und Angelman-Syndrom
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
Spinozerebelläre Ataxien
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
AGS
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
FISH RV 9 Mikrodeletionen (Prophase/Metaphase in situ Hybridization)
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2006
Huntington Krankheit
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
Labororientierte QS RV 29
  • cytogenetics
BVDH
10115 Berlin
Deutschland
2006
Men2
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
Spinocerebelläre Ataxien / spinocerebellar ataxias
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006