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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

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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-GReferenz-Seq.Heredity
ALG81404NM_024079.5AD
CC2D2A4863NM_001080522.2AR
DGUOK834NM_080916.3AR
DNAJB111250NM_016306.6AD
GANAB2900NM_198335.4AD
LRP54848NM_002335.4AD
PKD112912NM_001009944.3AD
PKD22907NM_000297.4AD
PKHD112225NM_138694.4AR
PRKCSH1587NM_002743.3AD
RPGRIP1L3948NM_015272.5AR
SEC632283NM_007214.5AD
TMEM672988NM_153704.6AR
B9D1615NM_015681.5AR
RTEL13732NM_032957.5AD, AR
SEC61B295NM_006808.3AD
STN11221NM_024928.5AR
TERT3399NM_198253.3AD, 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

Bioinformatics and clinical interpretation

No text defined