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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessXanthinuria type I + II

Summary

Short information

Two curated single gene sequence analyses according to the clinical suspicion Xanthinuria type I + II

ID
XP0080
Number of genes
2 Accredited laboratory test
Examined sequence length
6,7 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-GHeredity
MOCOS2667AR
XDH4002AR

Informations about the disease

Clinical Comment

Purine metabolism disorder, deficiency of xanthine dehydrogenase/oxidase, very low/undetectable concentrations of uric acid in blood/urine, very high xanthine concentration in urine, leading to urolithiasis

 

Synonyms
  • Alias: Hereditary xanthinuria
  • Alias: Xanthine dehydrogenase + aldehyde oxidase, combined deficiency
  • Alias: Xanthine dehydrogenase deficiency (XDH)
  • Xanthinuria, type I (XDH)
  • Xanthinuria, type II (MOCOS)
Heredity, heredity patterns etc.
  • AR
ICD10 Code
E79.8

Bioinformatics and clinical interpretation

No text defined