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.
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.
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.
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.