Health

Five mutations in the androgen receptor gene, located on the X chromosome, are known to result in androgen insensitivity. Androgen insensitivity syndrome causes male horses to be sterile and appear phenotypically female.

Stargardt disease is a degenerative eye disorder resulting from the progressive loss of the photoreceptor cells that are responsible for sensing light. Affected dogs show a decline in vision with age but appear to retain some vision throughout their life.

Copper toxicosis is a metabolic disorder that can cause chronic liver failure and neurological problems that result from deviations in normal levels of copper in the body. This test identifies genetic variants associated with risk for copper toxicosis or copper deficiency in the Labrador Retriever, Doberman Pinscher, Black Russian Terrier and Bedlington Terrier.

Dilated cardiomyopathy is a condition in which the heart has a decreased ability to pump blood. Two mutations associated with dilated cardiomyopathy in Doberman Pinschers have been identified. Testing for these mutations can identify individuals at risk for developing clinical symptoms of disease.

Narcolepsy is a disorder of the nervous system characterized by periods of sleepiness. This test detects a causal variant specific to Doberman Pinschers.

Junctional epidermolysis bullosa (JEB) is an inherited disease that causes moderate to severe blistering of the skin and mouth epithelia, sloughing of hooves in newborn foals, and skin lesions that develop as the foal ages. This test detects a causal variant specific to Saddlebreds and related breeds.

Equine familial isolated hypoparathyroidism (EFIH), previously called idiopathic hypocalcemia, is an invariably fatal condition that causes involuntary contraction of muscles and seizures due to low blood calcium concentrations in Thoroughbred foals.

Congenital stationary night blindness (CSNB) is an inherited condition in which affected individuals are unable to see in low light or dark conditions. This test detects a causal variant specific to Tennessee Walking Horses, Standardbred and Missouri Fox Trotter.