Description: Hereditary metabolic disorder of transport of amino acids (cysteine, lysine, arginine) in kidneys. There is an accumulation of cystine in the kidneys, which may further clot to form stones and lead to inflammation. Cysteine is insoluble in an acidic environment and, therefore, individuals with cystinuria accumulate insoluble cysteine in the urine (because urine is acidic). As a result, cysteine crystals are formed, and later urinary stones are formed. The disease process and the amount and size of cysteine crystals are determined by a number of factors e.g. age, gender, urine pH and density. There is difficulty in urinating, blood may be present in the urine. This disease, if left untreated, can lead to kidney failure and dog death.
Inheritance: autosomal recessive
Mutation: c.586C>T in exon 2 of the SLC3A1 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Newfoundlands and Landseers