Cystinuria (Type I – A) – Cat
Kodas: K859
Short description
Cystinuria is a hereditary renal transport disorder.
General information
Cystinuria is a hereditary renal transport disorder. The disease causes an error of the metabolism, which leads to the formation of cystine crystals and uroliths in the urinary tract. The formation can result in stranguria, hematuria, urinary obstruction and renal failure. The disorder is caused due to a mutation in the solute carrier family 3 (amino acid transporter heavy chain) member 1 (SLC3A1) gene.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | SLC3A1 |
| Chromosome | A3 |
| Mutation | c.1342C>T |
| Organ | Respiratory System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Clinical signs include hematuria, dysuria, pollakiuria, urinary obstruction with postrenal failure.
Additional information
This test is based on an association study.
References
Pubmed ID: 25417848
Year published: 2015
Omia ID: 256
Omia variant ID:
Turnaround information
- 10 working days