Equine Genetic Disease/Trait Test
The Equine Genetic Disease/Trait Test is a diagnostic tool designed to identify genetic mutations associated with heritable diseases and traits in horses. It screens for specific mutations linked to Severe Combined Immunodeficiency (SCID), Cerebellar Abiotrophy (CA), Junctional Epidermolysis Bullosa (JEB), and Lethal White Overo Syndrome (LWO). This test helps breeders and veterinarians make informed decisions to improve breeding outcomes and manage equine health effectively.
SCID results from a mutation in the DNA-dependent protein kinase gene, causing severe immune deficiency and early death in foals. CA is a neurodegenerative condition marked by ataxia and loss of coordination due to cerebellar dysfunction. JEB causes skin fragility and severe blistering, often leading to euthanasia in affected foals. LWO occurs in foals homozygous for the Overo gene, causing intestinal aganglionosis, leading to colic and early death. This genetic test evaluates whether a horse is clear, a carrier, or affected, helping to reduce the prevalence of these debilitating conditions through informed breeding practices.
Test name
Equine Genetic Disease/Trait Tests
Test Code
E182
Section
Genetic Testing
Species
Equine
Specimen
3 ml EDTA whole blood
Collection Guidelines
Collect an adequate amount of blood in a K3EDTA (purple top tube). Gently mix blood well after collection. Refrigerate sample at 4oC until shipment..
Turnaround time
5-6 Weeks
Packing Instructions
Label each sample with the animal’s name and a unique identifier, using a permanent marker or a secure adhesive label. Ensure the submittal form is completed with the animal’s information and relevant medical history.
References
- Finn, J.L., et al. (2023). “Advances in Equine Genetic Testing for Heritable Disorders.” Journal of Veterinary Genetics.
- Bailey, E., et al. (2022). “The Impact of Genetic Testing on Equine Breeding Programs.” Equine Veterinary Journal.
- Penedo, M.C., et al. (2021). “Screening for Genetic Diseases in Horses: Current Trends and Practices.” Journal of Equine Science.
