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.

Application:
Identification of the Overo variant (n/O) in horses without visible piebald markings.
Offspring carrying two copies of this variant (O/O) would be affected by Overo Lethal White Syndrome (OLWS) and would die within a few days of birth.
To avoid breeding between carriers, all horses that may be Frame carriers should be tested before breeding.

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 and the age of three years.

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...