©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessHepatic venoocclusive disease with immunodeficiency, differential diagnosis

Request form illness
Order shipping materials

Summary

Short information

Comprehensive differential diagnostic panel for Hepatic venoocclusive disease with immunodeficiency comprising 4 curated genes according to the clinical signs

ID
LP9448
Number of genes
4 Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
16,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SP1101668NM_001185015.2AR
ATM9171NM_000051.4AR
CLCN72418NM_001287.6AD, AR
PDGFRA3270NM_006206.6AD, Sus

Informations about the disease

Synonyms
  • Alias: Hepatic venoocclusive disease with immunodeficiency (SP110)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial (PDGFRA)
  • Allelic: Hypopigmentation, organomegaly, delayed myelination + development (CLCN7)
  • Allelic: Mycobacterium tuberculosis, susceptibility to (SP110)
  • Ataxia-telangiectasia (ATM)
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial (PDGFRA)
  • Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA)
  • Osteopetrosis, AD 2 (CLCN7)
  • Osteopetrosis, AR 4 (CLCN7)
  • Polyps, multiple + recurrent inflammatory fibroid, gastrointestinal [MONDO:0008285] (PDGFRA)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined