Application: - Clarification of underlying causes in symptomatic horses - Predisposition assessment in the context of a pre-purchase examination - Mating planning. The MIM-6 variant test replaces the name 'PSSM2 test' to reflect the effects of the tested variants and their significance for exertional myopathies. The test still contains the 6 gene variants P2, P3, P4, P8, Px,...

MIM-3 Variant (P3, P8, K1). This panel is available only to Icelandic horses. The panel tests the only three MIM ("PSSM2) variants known to occur in Icelandic Horses.

ACAN-dwarfism is found in Shetland ponies and miniature horses, in which abnormal cartilage growth leading to skeletal problems and dwarfism. Four different disease-causing variants of the ACAN gene are known so far: d1, d2, d3* and d4. The inheritance is autosomal recessive.

Cerebellar Abiotrophy is an autosomal recessive disease where affected animals develop ataxia due to the progressive death of brain cells responsible for movement. It is found in Arabians and related breeds.

Congenital Myotonia leads to impaired movement due to muscle rigidity. It is autosomal recessive and is found in New Forest ponies and other ponies with the stallion "Kantje's Ronaldo" in the pedigree.

Foal Immunodeficiency Syndrome is an autosomal recessive disorder found in Fell and Dales ponies. The nonfunctional immune system causes anemia and early death in foals.

This test detects the mutation in the B4GALT7 gene that causes dwarfism in the Friesian horse. The inheritance is autosomal recessive.

HWSD is a disorder where the layers of the hoof do not hold together correctly. Affected horses can have an unstabile, brittle hoof wall, leading to inflammation of the hooves and hoof pain. The disorder is autosomal recessive.

This test detects the c.1423C>T mutation in the B3FALNT2 gene responsible for Hydrocephalus in the Friesian horse. The inheritance is autosomal recessive.

Malignant Hyperthermia is an autosomal dominant mutation where fever, muscle rigidity and respiratory distress and even death can be triggered by specific anaesthetics or other stress/exercise. It also worsens the symptoms of horses with PSSM1 and 2.

MYH1 Myopathy is a hereditary disease with incomplete/semi-dominant inheritance, caused by a mutation (chr11:52993878T>C; E321G) in the MYH1 Myosin Heavy Chain 1 gene. This mutation is a major risk factor horse horses to develop Immune mediated myopathy (IMM) and non-exertional rhabdomyolysis. IMM affected animals can exhibit muscle extreme loss (especially in the hind...

PSSM1 is a form of exercise intolerance in which a disorder of the sugar metabolism of the muscles causes muscle damage.
The test detects the mutation (c.926G>A) in the GYS1 gene which causes PSSM1. The inheritance is incomplete autosomal dominant. Horses with one or two copies of the genetic variant (n/P1 or P1/P1) are at risk to develop symptoms of PSSM1; those with two...