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.
Equine familial isolated hypoparathyroidism (EFIH), previously termed idiopathic hypocalcemia, is an invariably fatal condition that causes involuntary contraction of muscles and seizures 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.