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 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. 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 20-30 hair roots. Tape the hair to the printable sample submission form. Alternatively, 5 mL blood in an EDTA tube. Send the tube with the printable sample submission form. Turnaround Time Standard Processing: Results in 5 working days after sample arrival at the laboratory. Clients organize and cover the costs of sending the samples. 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: PSSM1 n/n: Negative for PSSM1. No affected allele present. PSSM1 n/P1: Positive heterozygous for PSSM1. One mutated allele present. The horse can pass the PSSM1 allele to 50% of its progeny. PSSM1 P1/P1: Positive homozygous for PSSM1. Two mutated alleles present. The horse will pass the PSSM1 allele to 100% of its offspring. WFFS n/n: Negative for WFFS. No affected allele present. 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. 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. Check our FAQs for more information 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.

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  WFFS DNA Test Ensure the Health and Future of Your Horses with Accurate WFFS Testing. Our DNA test verifies the presence of the affected allele at the PLOD1 locus responsible for Warmblood Fragile Foal Syndrome (WFFS), also known as Fragile Foal Syndrome (FFS). Sample Requirements 30 to 40 hair roots - envelope Alternatively, 5 mL blood - K3 EDTA tube Turnaround Time 2 to 5 working days Results Description The DNA test verifies the presence of the affected allele at the PLOD1 locus responsible for WFFS and presents results as one of the following: n/n: Negative for WFFS. No affected allele present. The horse is not a carrier of the WFFS mutation. n/WFFS: Carrier, heterozygous for WFFS. One mutated allele present. The horse can pass the WFFS allele to 50% of its progeny when bred. WFFS/WFFS: Positive, homozygous for WFFS. Two mutated alleles present. The foal will exhibit severe clinical signs and must be euthanized shortly after birth due to the untreatable nature of the disease. Genetic Inheritance Warmblood Fragile Foal Syndrome (WFFS) is an inherited autosomal recessive disorder caused by a single mutation in the PLOD1 gene. Clinical Signs and Affected Breeds The disease is present at birth. Affected foals have skin that lacks tensile strength, characterized by tearing, ulceration, and other lesions from normal contact. Lesions are most noted on pressure points, gums, and other oral cavity mucous membranes. Limb joints are lax and hyper-extensible, making it difficult for affected foals to stand normally. WFFS/FFS is similar to Ehlers Danlos Syndrome (EDS) in humans. The mutation has been reported in Warmblood breeds (11-30% carriers) and at low frequency in Thoroughbreds (2.75% of Irish Thoroughbreds), as well as in Hanoverian, Selle Français, KWPN, Oldenburg, and Westphalians. Why Test? Testing for WFFS is crucial for breeders to make informed decisions. By identifying carriers and avoiding breeding two carriers together, the risk of producing affected foals can be minimized. This helps ensure the health and wellbeing of future generations of horses. Learn More Detailed Results Description The DNA test results will be one of the following: n/n: Negative for WFFS. No affected allele present. The horse is not a carrier of the WFFS mutation. n/WFFS: Carrier, heterozygous for WFFS. One mutated allele present. The horse can pass the WFFS allele to 50% of its progeny when bred. WFFS/WFFS: Positive, homozygous for WFFS. Two mutated alleles present. The foal will exhibit severe clinical signs and must be euthanized shortly after birth due to the untreatable nature of the disease. Additional Information 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. This condition significantly impacts a horse's health and performance, making genetic testing an essential tool for breeders and buyers. References 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). 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. Check our FAQs for more information FAQs What breeds are affected by WFFS? WFFS primarily affects Warmbloods but has also been detected in breeds like Thoroughbreds, Knabstruppers, Haflingers, and American Sport Ponies. How is WFFS inherited? 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 WFFS be managed? Unfortunately, there is no cure for WFFS. The condition is lethal, and affected foals exhibit severe clinical signs shortly after birth. The best management strategy is through genetic testing to inform breeding decisions and avoid producing affected foals. Why is it important to test for WFFS? Testing for WFFS is crucial for breeders to make informed decisions. By identifying carriers and avoiding breeding two carriers together, the risk of producing affected foals can be minimized. This helps ensure the health and wellbeing of future generations of horses. Visit our full FAQ page for more details.

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  Certified DNA Disorder-Free Lines Ensure your horse's lineage is free from genetic disorders with our comprehensive DNA testing panel. Certify your horse against 10 genetic disorders: SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS. Sample Collection Hair Roots: 30 to 40 hair roots. Blood Sample: 5 mL blood in a K3 EDTA tube. Turnaround Time Standard Processing: Results in 5 to 10 working days after sample arrival at the laboratory. Clients organize and cover the costs of sending the samples. Why Test? Our Certified DNA Disorder-Free Lines test helps breeders, purchasers, and studbook certifiers ensure that horses are free from genetic disorders. This guarantees healthier horses, informed breeding decisions, and enhanced peace of mind. Learn More Results Description The DNA test results will be one of the following: n/n: Negative. No affected allele present. n/P1: Positive heterozygous. One mutated allele present. The horse can pass the allele to 50% of its progeny. P1/P1: Positive homozygous. Two mutated alleles present. The horse will pass the allele to 100% of its offspring. Additional Information Polysaccharide Storage Myopathy (PSSM1) is a hereditary muscle disease that affects many breeds. The condition is caused by a mutation in the GYS1 gene, leading to an abnormal accumulation of glycogen in the muscles. This can cause symptoms such as muscle tremors, stiffness, reluctance to move, and excessive sweating. Management of PSSM1 includes dietary changes and regular exercise to help mitigate symptoms. Check our FAQs for more information FAQs Why is genetic testing important for horse breeders? Genetic testing is essential for breeders to make informed breeding decisions and to ensure that their horses do not carry alleles for genetic disorders. This helps in maintaining the health and performance of the breed. What breeds are affected by SCID and LFS? SCID and LFS are commonly found in Arabian horses and breeds influenced by Arabian bloodlines. Testing is crucial for breeding and purchasing decisions to ensure the health of the horses. How prevalent are genetic disorders in certain horse breeds? Genetic disorders can have significant frequencies in specific breeds. For example, HERDA is prevalent in Quarter Horses, while WFFS often affects Warmbloods. Regular testing helps in identifying carriers and making informed decisions. How do genetic disorders impact horse health? Genetic disorders such as SCID, LFS, PSSM1, HYPP, and others can significantly impact the health, performance, and longevity of horses. Early detection through genetic testing allows for better management and breeding practices to ensure healthier future generations. Visit our full FAQ page for more details. How it Works ✨ Purchase the Test: Select and buy the DNA test online. 📄 Receive Instructions: After payment confirmation, receive instructions for hair root collection and a printable submission form. ✂️ Collect Hair Roots: Pluck hair roots, tape them on the submission form, place it in an envelope or sealed plastic bag. 📬 Send Samples: Send to our lab by regular mail or express delivery to: Equigerminal LabRua Eduardo Correia, Nº133030-504 Coimbra, PORTUGAL 📧 Receive Results: Get the result certificate by email. If you need assistance, contact us at support@equigerminal.pt. ♻️ Note: No need for a sample collection kit, enhancing sustainability by reducing waste and plastic use.

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