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

IllnessVEXAS-Syndrom

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Summary

Short information

Curated single gene sequence analysis for VEXAS syndrome

ID
VP4278
Number of genes
1 Accredited laboratory test
Examined sequence length
3,2 kb (Core-/Core-canditate-Genes)
- (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
UBA13177NM_003334.4SMu

Informations about the disease

Synonyms
  • VEXAS: Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic
  • Allelic: Spinal muscular atrophy, XL 2, infantile (UBA1)
  • DD: Alcohol intoxication, copper deficiency/zinc toxicity, myeloid neoplasms
  • VEXAS syndrome, somatic (UBA1)
Heredity, heredity patterns etc.
  • SMu
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined