Cystinuria (Type I – A) – Labrador Retriever
Kodas: H643
Short description
Cystinuria is a metabolic disorder which causes a buildup of the amino acid cysteine in the urine.
General information
Cystinuria is a metabolic disorder which causes a buildup of the amino acid cysteine in the urine. This buildup can form into painful kidney and bladder stones, which can cause further complications such as obstructed urine flow and may ultimately require an operation to remove. Dogs with cystinuria can be fed a special diet to minimize the chances of the formation of cysteine stones. This particular variant of the disorder, Cystinuria Type I-A, is caused by a recessive mutation to the gene SLC3A1. It is found in the Labrador Retriever (this test) and also the Newfoundland.
Specifications
| Breeds | |
|---|---|
| Gene | SLC3A1 |
| Chromosome | 10 |
| Mutation | c.350delG |
| Organ | Urinary system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Signs of a developed stone include cystitis (bladder inflammation), hematuria (bloody urine) and painful, frequent, strained urination in small volumes. Cystinuria can be diagnosed by identifying cysteine crystals in urine sediment.
References
Pubmed ID: 24001348
Year published: 2013
Omia ID: 256
Omia variant ID:
Turnaround information
- 10 working days