IllnessCystinuria type 1-3
Summary
Short information
2 curated single gene sequence analyses according to the clinical suspicion Cystinuria type 1-3
ID
CP0240
Number of genes
2
Accredited laboratory test
Examined sequence length
3,6 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 +
Gene panel
Informations about the disease
Clinical Comment
Renal tubular amino acid transport characterized by recurrent formation of kidneys cystine stones
Synonyms
- Alias: Cystinuria type I-III
- Cystinuria (SLC3A9)
- Cystinuria (SLC7A9)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
ICD10 Code
E72.0
Bioinformatics and clinical interpretation
No text defined