Einrichtung

amedes genetics

Schiffgraben 30
30175 Hannover
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Dr. med. Dipl.-Biochem. Ralf Glaubitz

Kategorisierung

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

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

Tumorzytogenetik

Genetische Beratung

Diagnosen

Gen Krankheit OMIM Methode
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY202010
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY202110
CYP21
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY201910, 202110
APOE
ALZHEIMER DISEASE 2, LATE-ONSET; AD2104310
HLA-B
ANKYLOSING SPONDYLITIS106300
F2
COAGULATION FACTOR II; F2176930
MLH1
COLORECTAL CANCER; CRC114500
CFTR
CYSTIC FIBROSIS; CF219700
GJB2
GJB6
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1220290
DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD274270
F5
FACTOR V DEFICIENCY227400
HEMOCHROMATOSIS; HFE235200
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY236250
LDLR
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT143890, 603776
APOB
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B144010
ABL
BCR
LEUKEMIA (acute lymphoblastic)613065
ABL
BCR
LEUKEMIA, CHRONIC MYELOID; CML608232
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3600496
PAI1
PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1173360
PI
PROTEASE INHIBITOR 1; PI107400
RHD
RHESUS BLOOD GROUP, D ANTIGEN; RHD111680
SRY
SEX-DETERMINING REGION Y; SRY480000
AZF
DAZ
RBMY1A1
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED415000
CFTR
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD277180

Panels

Gen Name Kategorie Schlagworte/Indikation

Ringversuche

Ringversuch Kategorisierung Organisator Jahr