DNA Test Bundle: PSSM1 & WFFS
Discover Peace of Mind with Precision Equine Genetics. Our DNA test bundle offers a comprehensive genetic screening for Polysaccharide Storage Myopathy Type 1 (PSSM1) and Warmblood Fragile Foal Syndrome (WFFS), empowering you with essential information for the wellbeing of your equine companion.
Tests Included
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PSSM1 Genetic Test: Uncover the presence of the specific allele at the GYS1 locus responsible for PSSM1, a condition affecting muscle metabolism in horses. Early detection can guide management and care. Learn more about the PSSM1 test here.
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WFFS Genetic Test: This test identifies the allele at the PLOD1 locus responsible for Warmblood Fragile Foal Syndrome (WFFS). Knowing your horse's genetic status aids in making informed breeding decisions. Further details on the WFFS test can be found here.
Sample Collection
Turnaround Time
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Standard Processing: Results in 5 working days after sample arrival at the laboratory. Clients organize and cover the costs of sending the samples.
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Premium Processing: Results in 2 working days after sample arrival. This service includes free express delivery. For an additional fee of €35, the laboratory arranges express shipping with package pick-up from your address (available for non-remote regions). For premium processing, please contact the laboratory at support@equigerminal.pt for further assistance.
Why Test?
This genetic test helps breeders identify horses carrying the PSSM1 and WFFS alleles. Informed breeding choices can prevent the birth of affected foals. While PSSM1 affects muscle metabolism, WFFS is a fatal connective tissue disorder. Testing for these conditions is often required by studbooks and is highly recommended during pre-purchase exams to ensure the horse's health and performance.
Learn More
Results Description
The DNA test results will be one of the following:
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PSSM1 n/n: Negative for PSSM1. No affected allele present.
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PSSM1 n/P1: Positive heterozygous for PSSM1. One mutated allele present. The horse can pass the PSSM1 allele to 50% of its progeny.
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PSSM1 P1/P1: Positive homozygous for PSSM1. Two mutated alleles present. The horse will pass the PSSM1 allele to 100% of its offspring.
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WFFS n/n: Negative for WFFS. No affected allele present.
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WFFS n/WFFS: Carrier for WFFS. One copy of the mutated allele present. The horse can pass the WFFS allele to 50% of its progeny.
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WFFS WFFS/WFFS: Positive for WFFS. Two copies of the mutated allele present. The foal will exhibit severe clinical signs and must be euthanized shortly after birth due to the untreatable nature of the disease. Such foals will not survive to adulthood and hence will not pass on the allele.
Additional Information
Polysaccharide Storage Myopathy (PSSM1) is a hereditary muscle disease affecting many breeds, caused by a mutation in the GYS1 gene. Warmblood Fragile Foal Syndrome (WFFS) is a fatal genetic defect of connective tissue, resulting from a mutation in the PLOD1 gene. WFFS is characterized by hyperextensible, fragile skin and mucous membranes, leading to severe lesions and often resulting in euthanasia of affected foals shortly after birth. Both conditions can significantly impact a horse's health and performance, making genetic testing an essential tool for breeders and buyers.
References
Ablondi, M., et al. (2022).
Performance of Swedish Warmblood fragile foal syndrome carriers and breeding prospects. Genet Sel Evol 54, 4.Rowe, Á., et al. (2021).
Warmblood fragile foal syndrome causative single nucleotide polymorphism frequency in horses in Ireland. Ir Vet J 74, 27.Dias, N. M., et al. (2019).
Dias, N. M., et al. (2019). Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil. Vet J 248, 101–102.Hoelzle, L., et al. (2020).
Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States. Genes 11(12), 1518.
FAQs
What breeds are affected by PSSM1 and WFFS?
PSSM1 affects many breeds, including Quarter Horses, Belgian Draft Horses, and Warmbloods. WFFS primarily affects Warmbloods but has also been detected in breeds like Thoroughbreds, Knabstruppers, Haflingers, and American Sport Ponies.
How are PSSM1 and WFFS inherited?
PSSM1 is inherited in an autosomal dominant manner, meaning horses with one (n/P1) or two (P1/P1) copies of the mutated gene can develop the disease. WFFS is inherited as an autosomal recessive trait, requiring two copies of the mutated gene (WFFS/WFFS) for the disease to manifest. Affected foals with two copies of the WFFS mutation will not survive to adulthood and must be euthanized shortly after birth.
How can PSSM1 and WFFS be managed?
PSSM1 management includes dietary modifications to reduce starch and sugar intake, and a consistent exercise regimen. WFFS, however, is a lethal condition with no cure, emphasizing the importance of genetic testing to inform breeding decisions and avoid producing affected foals.
Visit our full FAQ page for more details.
