Health

Friesian Health Panel

This health panel bundles together the three known tests for genetic diseases found in the Friesian horse.

Distichiasis

Distichiasis is a condition in which the eyelashes grow from an abnormal position on the edges of the eyelids. These misplaced lashes can contact the cornea (clear ‘window’ of the front of the eye), leading to irritation and corneal ulcers, which can impact vision.

Polysaccharide Storage Myopathy (PSSM1)

Type 1 Polysaccharide Storage Myopathy is a glycogen storage disease that results in the accumulation of abnormal complex sugars in muscle cells, which can lead to muscle pain, weakness, and reluctance to move.

Androgen Insensitivity Syndrome (AIS)

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 in Labrador Retrievers

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 (Menkes and Wilson diseases)

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 1 and 2 in Doberman Pinschers

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 in Doberman Pinschers

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 (JEB2) in Saddlebreds

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.