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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessDuctal plate malformations, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Ductal plate malformations comprising 13 or altogether 18 curated genes according to the clinical signs

ID
GP5656
Number of genes
18 Accredited laboratory test
Examined sequence length
55,0 kb (Core-/Core-canditate-Genes)
64,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ALG81404AD
CC2D2A4863AR
DGUOK834AR
DNAJB111250AD
GANAB2900AD
LRP54848AD
PKD112912AD, AR
PKD22907AD
PKHD112225AD
PRKCSH1587AD
RPGRIP1L3948AR
SEC632283AD
TMEM672988AR
B9D1615AR
RTEL13732AD, AR
SEC61B295AD
STN11221AR
TERT3399AD, AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q44.5

Bioinformatics and clinical interpretation

No text defined