The test detects a frameshift mutation (c.600dupC) in the MFSD12 gene which is causative for the Mushroom dilution. The inheritance is autosomal recessive. Only horses with two copies of the Mushroom factor (mu/mu) show the Mushroom dilution.

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...

The test detects the mutation (c.388G>T) in the ST14 gene which is causative for ‘Naked Foal Syndrome’ (NFS). The inheritance is autosomal recessive, so that only animals in which both copies of the gene are defective become ill. Affected foals are mostly or completely hairless, and usually die between birth and the age of three years.

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.

PATN1 is a modifier of the Leopard Spotting Complex. If a horse has Pattern-1 and LP, the foal will show an increased amount of white on its body (often more than 60%). If a horse has Pattern-1 without LP, there is no phenotypic effect on the coat color.

Pearl is a dilution factor also known as the "Barlink factor". It is a mutation in the same gene as the Cream mutation. Pearl is autosomal recessive. Two copies of pearl (prl/prl) are necessary to see the dilution. A pearl carrier (N/prl) has no dilution alone unless it also has a copy of the Cream variant (n/Cr).

Height in animals depends on multiple factors including genes and the environment. One genetic variant (a single basepair change in the LCORL-regulatory region) has a strong influence on height in warmblood horses. This test enables breeders to predict a horse’s adult height before they are fully grown (accuracy: 70% ; +/- 5 cm) and to plan breedings to select for taller or...

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.

Application:
- Identification of healthy carrier animals (N/scid)
- Confirmation of the wild-type genotype (N/N)
- Differential diagnosis in cases of clinical immunodeficiency
The test reliably detects the presence of the mutation, thereby enabling safe breeding planning with carrier animals.
Offspring with two copies of the SCID mutation would be affected by ‘severe...

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...

Splashed White 1 (SW1) is a variant found in many different breeds. It is autosomal semi-dominant, so horses with two copies (SW1/SW1) have a more extreme phenotype than those with only one copy (n/SW1). Horses with one copy usually have a wide blaze, often wider on the lower part of the face. The face-white may be associated with blue eyes, white stockings and small white...