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ErkrankungHT amedes Mutationsträger-Test für Ashkenasi-Juden

Zusammenfassung

Kurzinformation

AP0001_KI

ID
AP0001
Anzahl Gene
17 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
52,4 kb (Core-/Basis-Gene)
- (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

AP0001_DH

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
APC8532AD und/oder Sus
ASPA942AR
BLM4254AR und/oder Sus
BRCA15592AD und/oder AR und/oder SMu und/oder Sus
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
CFTR4443AD und/oder AR
CYP21A21488AR
ELP13999AR
F111878AD und/oder AR
FANCC1677AR und/oder Sus
GBA1611AD und/oder AR und/oder Sus
GJB2681AD und/oder AR und/oder Dig
GJB6786AD und/oder AR und/oder Dig
HEXA1590AR
MCOLN11743AR
SMPD11896AR
TOR1A999AD

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_AP0001

 

Synonyme
  • Allelic: Arthrogryposis multiplex congenita 5 (TOR1A)
  • Allelic: Bart-Pumphrey syndrome (GJB2)
  • Allelic: Desmoid disease, hereditary (APC)
  • Allelic: Fanconi anemia, complementation group D1 (BRCA2)
  • Allelic: Fanconi anemia, complementation group S (BRCA1)
  • Allelic: GM2-gangliosidosis, several forms (HEXA)
  • Allelic: Glioblastoma 3 (BRCA2)
  • Allelic: Hex A pseudodeficiency (HEXA)
  • Allelic: Hypertrypsinemia, neonatal (CFTR)
  • Allelic: Hystrix-like ichthyosis with deafness (GJB2)
  • Allelic: Keratitis-ichthyosis-deafness syndrome (GJB2)
  • Allelic: Keratoderma, palmoplantar, with deafness (GJB2)
  • Allelic: Lewy body dementia, susceptibility to (GBA1)
  • Allelic: Medulloblastoma (BRCA2)
  • Allelic: Medulloblastoma (ELP1)
  • Allelic: Oligosyndactyly of the hands, Cenani-Linz-like [panelapp] (GREM1)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA1)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: Sweat chloride elevation without CF (CFTR)
  • Allelic: Vohwinkel syndrome (GJB2)
  • Allelic: Wilms tumor (BRCA2)
  • Adenomatous polyposis coli (APC)
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
  • Bloom syndrome (BLM)
  • Brain tumor-polyposis syndrome 2 (APC)
  • Breast cancer, male, susceptibility to (BRCA2)
  • Breast-ovarian cancer, familial, 1 (BRCA1)
  • Breast-ovarian cancer, familial, 2 (BRCA2)
  • Bronchiectasis with/-out elevated sweat chloride 1, modifier of (CFTR)
  • Canavan disease (ASPA)
  • Colorectal cancer, increased risk, association with [panelapp] (GREM1)
  • Congenital bilateral absence of vas deferens (CFTR)
  • Cystic fibrosis (CFTR)
  • Deafness, AD 3A (GJB2)
  • Deafness, AR 1A (GJB2)
  • Dysautonomia, familial (ELP1)
  • Dystonia-1, modifier of (TOR1A)
  • Dystonia-1, torsion (TOR1A)
  • Factor XI deficiency, AD (F11)
  • Factor XI deficiency, AR (F11)
  • Fanconi anemia, complementation group C (FANCC)
  • Gardner syndrome (APC)
  • Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
  • Gaucher disease, perinatal lethal (GBA1)
  • Gaucher disease, type I (GBA1)
  • Gaucher disease, type II, III, IIIC (GBA1)
  • Hereditary Mixed Polyposis Syndrome [panelapp] (GREM1)
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
  • Mixed polyposis syndrome [panelapp] (GREM1)
  • Mucolipidosis IV (MCOLN1)
  • Niemann-Pick disease, type A (SMPD1)
  • Niemann-Pick disease, type B (SMPD1)
  • Pancreatitis, hereditary (CFTR)
  • Polyposis Syndrome, Hereditary Mixed, 1 [panelapp] (GREM1)
  • Tay-Sachs disease (HEXA)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Z31.5

Bioinformatik und klinische Interpretation

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