©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungMalformationen der Gallenwege, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Malformationen der Gallenwege mit 13 bzw. zusammen genommen 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP5656
Anzahl Gene
18 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
55,0 kb (Core-/Basis-Gene)
64,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ALG81404AD und/oder AR
CC2D2A4863AR
DGUOK834AR
DNAJB111250AD
GANAB2900AD
LRP54848AD und/oder AR und/oder Dig und/oder Mult
PKD112912AD und/oder AR
PKD22907AD
PKHD112225AR
PRKCSH1587AD
RPGRIP1L3948AR
SEC632283AD
TMEM672988AR
B9D1615AR
RTEL13732AD und/oder AR
SEC61B295AD
STN11221AR
TERT3399AD und/oder AR und/oder SMu und/oder Sus

Infos zur Erkrankung

Synonyme
  • Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • Allelic: Bone mineral density variability 1 (LRP5)
  • Allelic: Congenital disorder of glycosylation, type Ih (ALG8)
  • Allelic: Exudative vitreoretinopathy 4 (LRP5)
  • Allelic: Hyperostosis, endosteal (LRP5)
  • Allelic: Leukemia, acute myeloid (TERT)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Nephronophthisis 11 (TMEM67)
  • Allelic: Osteopetrosis, AD 1 (LRP5)
  • Allelic: Osteoporosis (LRP5)
  • Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
  • Allelic: Osteosclerosis (LRP5)
  • Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
  • Allelic: RHYNS syndrome (TMEM67)
  • Allelic: van Buchem disease, type 2 (LRP5)
  • Association with polycystic liver disease 1 with or without renal cysts (SEC61B)
  • COACH syndrome 1 (TMEM67)
  • COACH syndrome 2 (CC2D2A)
  • COACH syndrome 3 (RPGRIP1L)
  • Cerebroretinal microangiopathy with calcifications and cysts 2 (STN1)
  • Dyskeratosis congenita, AD 2 (TERT)
  • Dyskeratosis congenita, AD 4 (RTEL1)
  • Dyskeratosis congenita, AR 4 (TERT)
  • Dyskeratosis congenita, AR 5 (RTEL1)
  • Joubert syndrome 27 (B9D1)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 9 (CC2D2A)
  • Meckel syndrome 3 (TMEM67)
  • Meckel syndrome 5 (RPGRIP1L)
  • Meckel syndrome 6 (CC2D2A)
  • Meckel syndrome 9 (B9D1)
  • Mitochondrial DNA depletion syndrome 3 [hepatocerebral type] (DGUOK)
  • Polycystic kidney disease 1 (PKD1)
  • Polycystic kidney disease 2 (PKD2)
  • Polycystic kidney disease 3 (GANAB)
  • Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
  • Polycystic kidney disease 6 with/-out polycystic liver disease (DNAJB11)
  • Polycystic liver disease 1 (PRKCSH)
  • Polycystic liver disease 2 (SEC63)
  • Polycystic liver disease 3 with/-out kidney cysts (ALG8)
  • Polycystic liver disease 4 with/-out kidney cysts (LRP5)
  • Portal hypertension, noncirrhotic (DGUOK)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Mult
  • AD und/oder AR und/oder SMu und/oder Sus
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q44.5

Bioinformatik und klinische Interpretation

Kein Text hinterlegt