Deutsch
IllnessLesch-Nyhan syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Lesh-Nyhan syndrome
ID
LS0190
Number of genes
1
Accredited laboratory test
Examined sequence length
0,7 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 +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| HPRT1 | 657 | NM_000194.3 | XLR |
Informations about the disease
Clinical Comment
Most severe form of hypoxanthine-guanine phosphoribosyltransferase deficiency, hereditary disorder of purine metabolism, uric acid overproduction, neurological troubles, behavioral problems
Synonyms
- HPRT complete deficiency (HPRT1)
- Hypoxanthine guanine phosphoribosyltransferase complete deficiency (HPRT1)
- Hypoxanthine guanine phosphpribosyltransferase 1 deficiency, grade IV (HPRT1)
Heredity, heredity patterns etc.
- XLR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined