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

IllnessArthrogryposis, renal dysfunction + cholestasis

Request form illness

Summary

Short information

A curated panel containing 2 genes for the comprehensive analysis of the known genetically caused forms of arthrogryposis, renal dysfunction + cholestasis

ID
AP0950
Number of genes
2 Accredited laboratory test
Examined sequence length
3,4 kb (Core-/Core-canditate-Genes)
- (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
VIPAS391482NM_022067.4AR
VPS33B1854NM_018668.5AR

Informations about the disease

Clinical Comment

Multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction + neonatal cholestasis with low serum gamma-glutamyl transferase activity

 

Synonyms
  • Alias: ARC syndromes; ARCS1; ARCS2
  • Allelic: Neonatal + adult cholestasis (VPSS33B)
  • Allelic: Unexplained kidney failure in young people (VPS33B)
  • Allelic: Vacuolar myopathy (VPS33B)
  • Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
  • Arthrogryposis, renal dysfunction + cholestasis 2 (VIPAS 39)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined