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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CTNS1203NM_001031681.3AR

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