Cystinuria is a genetic disorder that leads to recurrent urolith formation. The disorder is caused by mutations in the SLC7A9 and SLC3A1 gene. The mutation causes hyperexcretion of cystine in the urine and sebsequent precipitation of cystine. The inheritance of the genetic disorder is autosomal recessive.
Clinicial signs include cystine stones in the kidneys, ureters, and bladder. However, once a stone is formed, the following signs and symptoms can occur nausea, flank pain, urinary tract infections and rarely, acute or chronic kidney disease.
This new test is available with test code H929 and is added to the CombiBreed packages for the French and Englisch bulldog (H531 and H533).