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

IllnessCystinuria type 1-3

Request form illness

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

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
SLC3A12058AR, AD
SLC7A91464AR, AD

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