Combined test for the two genes (Agouti, Extension) that determine the basic coat colours (chestnut, bay, black). Application: - accurate coat colour documentation - clarification of genetic status for breeding purposes. Please also note the test bundles for determining dilution factors, for dominant white, and for spotting patterns.

The Agouti gene (A) is involved with the production of both red (pheomelanin) and black (eumelanin) pigments. It regulates the relative amounts of each pigment produced in melanocytes (pigment-producing cells) in different regions of the horse’s body. A functional version (AA or Ae) results in a horse that has a base color of bay with black mane, tail, legs and ear tips. Two...

Horses with one or two copies of the Champagne mutation will have diluted coat color, including mane and tail. Classic Champagne (black base color), Gold Champagne (chestnut base color), Amber Champagne (bay base color) are possible.

The Cream mutation dilutes the red pigment (phaeomelanin) in the hair. It is incomplete dominant: one copy of the cream dilution (n/Cr) results in Palomino and Buckskin coat colors; Smoky Black (black carrying cream) horses look the same as normal black. With two copies of the Cream variant (Cr/Cr), the dilution effect is complete, giving the Cremello, Perlino, and Smoky...

Dun is the original coat color of all horses (wild-type). Over time, two mutations (nd1 and nd2) caused the now wide-spread undiluted phenotypes most modern horses display. Horses with one or two copies of this variant (D/D, D/nd1, D/nd2) are Dun and show the diluted coat color and the primitive markings (zebra stripes, dorsal stripe) on their legs and back. A dun horse must...

Turner syndrome is the most common chromosomal abnormality in mares.
The missing X chromosome leads to an incomplete internal reproductive tract with a normal exterior phenotype.
Application of the test:
- Differential diagnosis of infertility, inactive ovaries and underdeveloped fallopian tubes
- Ensuring normal X-chromosomal constitution in mares that are not jet sexually...

Horses with two copies of the MC1R variant (ee) are chestnut (red, sorrel) in color. Horses with only one copy of this variant (Ee) are bay or black-based (depending upon their variants at the Agouti locus), but carry chestnut. A horse that does not carry the variant (EE) cannot have a chestnut foal, even if bred to a chestnut horse.

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.

The KIT Noriker roan allele has been found in Noriker, Lipizzan, Quarter Horse, Murgese and some draft breeds. It is not the classical roan mutation found in most roan quarter horses, but it has not yet been tested in a wide variety of breeds.

Application:
- Identification of carriers in breeding selection
- Differential diagnosis in clinical cases of Exertional Myopathy.
PSSM1 is a form of Exertional Myopathy 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...

Testing for Sabino 1 allows breeders to identify:
- homozygous animals (animals with two copies of the variant) which will always produce foals with the Sabino 1 pattern.
- if a given white spotting pattern is based on the Sabino 1 variant.

Silver results in the decreased storage of the black pigment “eumelanin” in hair, so that horses with black and bay base colors will show a dilution. Horses with a Chestnut base color may be carriers for the Silver mutation but do not develop the diluted coat color themselves. Horses with only one copy of the variant (n/Z) will show the same phenotype as horses with two...