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.

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.

Frame Overo is a white spotting pattern most common in Quarter Horses, Paint Horses, and specific American Saddlebred and Throroughbred and Warmblood lines. Frame has a great phenotypic variablity; horses with the frame mutation may show the “typical” pattern, or no white at all. For this reason, all horses that may carry frame should be tested before breeding, even if they...

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

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 or the age of three years. The exact cause of the early death is...

SCID is caused by the improper development of cells of the immune system (T- and B cells) and causes severe, non-specific infections which are usually fatal.