IllnessCystinosis
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Cystinosis
ID
CS0270
Number of genes
1
Accredited laboratory test
Examined sequence length
1,3 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
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
CTNS | 1203 | NM_001031681.3 | AR |
Informations about the disease
Clinical Comment
Lysosomal disease with accumulation of cystine in lysosomes, causing damage in different organs + tissues, particularly in the kidneys + eyes. 3 forms: nephropathic infantile, nephropathic juvenile + ocular
Synonyms
- Alias: Cystinosis, atypical nephropathic (CTNS)
- Alias: Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
- Alias: Cystinosis, nephropathic (CTNS)
- Alias: Cystinosis, ocular nonnephropathic (CTNS)
- Alias: Lysosomal cystine transport protein, defect of (CTNS)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined