Deutsch
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
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