Primary hyperoxaluria type I (PH I) is a hereditary disease which can be tested with a DNA test. Primary hyperoxaluria type I (PH I) is an autosomal recessive disorder of glyoxylate metabolism caused by a defective alanine-glyoxylate aminotransferase (AGT) enzyme. It is characterized by the accumulation of oxalate and subsequent precipitation of calcium oxalate crystals, primarily in the kidneys, leading to progressive kidney failure. In later stages of the disease, the crystals are accumulated in other tissues including muscles, retina, joints, cartilage and bones. Symptoms may include intense abdominal pain radiating to the groin, blood in the urine, and the passage of kidney stones. 

Inheritance: autosomal recessive - read more

Mutation: AGXT gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.