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

IllnessLebervenen-Verschlusskrankheit + Immunschwäche, Differentialdiagnose

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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 loci
Loci typeCount
Gen4
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 +

 

Loci panel

Gen

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