About the Test The PSSM1 DNA test verifies the presence of the affected allele at the GYS1 locus responsible for Polysaccharide Storage Myopathy Type 1 (PSSM1). Sample Collection Hair Roots: 20 to 30 hair roots. Pull the hair and tape it onto the printable sample submission form. Blood Sample: 5 mL blood in a K3 EDTA tube. Collect the blood and send the tube together 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. Why Test? This genetic test helps breeders identify horses carrying the PSSM allele. Informed breeding choices can prevent the birth of affected foals. While PSSM cannot be cured, muscle function can be managed with dietary changes and exercise routines. The PSSM1 test is required by many studbooks and is highly recommended when considering the purchase of a horse. Testing for PSSM1 as part of the pre-purchase examination can ensure that you are making an informed decision, as the condition can impact the horse's performance and overall health. Learn More Results Description The DNA test results will be one of the following: n/n: Negative for PSSM1. No affected allele present. n/P1: Positive heterozygous for PSSM1. One mutated allele present. The horse can pass the PSSM1 allele to 50% of its progeny. P1/P1: Positive homozygous for PSSM1. Two mutated alleles present. The horse will pass the PSSM1 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 What breeds are affected by PSSM1? PSSM1 affects many breeds, including Quarter Horses, Belgian Draft Horses, and Warmbloods. The prevalence of the mutation varies by breed, with some breeds having a higher incidence of the condition. How is PSSM1 inherited? PSSM1 is inherited in an autosomal dominant manner, meaning that horses with one (n/P1) or two (P1/P1) copies of the mutated gene can develop the disease. Horses with two copies generally show more severe symptoms. How can PSSM1 be managed? Management includes dietary modifications to reduce starch and sugar intake, and a consistent exercise regimen. These measures can help prevent the onset of symptoms or reduce their severity. Visit our full FAQ page for more details.

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  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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  MIM (PSSM2) DNA Test Ensure the Health and Performance of Your Horses with Accurate MIM Testing. Our DNA test identifies the presence of genetic variants associated with Muscle Integrity Myopathy (MIM), formerly known as PSSM2, which affects muscle function and structure. Sample Requirements 30 to 40 hair roots - envelope Alternatively, 5 mL blood - K3 EDTA tube Turnaround Time up to 15 working days Results Description The DNA test identifies six genetic variants that predispose horses to developing symptoms of Muscle Integrity Myopathy: P2: Myotilinopathy P3: Filaminopathy P4: Myozenin-3-Myopathy P8: PYROXD1-Myopathy Px: CACNA2D3-Myopathy K1: COL6A3-Myopathy Genetic Inheritance Muscle Integrity Myopathy (MIM) is caused by a hereditary predisposition involving multiple genetic variants. These variants disrupt the structure and function of muscle fibers, leading to symptoms such as muscle stiffness, unexplained lameness, and difficulty building muscle. Clinical Signs and Affected Breeds Symptoms of MIM can vary widely among horses and include unexplained lameness, muscle stiffness, difficulty with gait changes, reluctance to move, muscle atrophy, and behavioral changes. Almost any breed can be affected, with common occurrences in breeds like Quarter Horses, Warmbloods, and Thoroughbreds. Why Test? Testing for MIM is crucial for breeders and owners to make informed decisions. By identifying carriers of the genetic variants, breeding choices can be optimized to prevent the spread of these disorders. Additionally, knowing a horse's genetic status can help manage and mitigate symptoms through tailored exercise and feeding protocols. Learn More Detailed Results Description The DNA test results will indicate the presence of the following genetic variants: P2: Myotilinopathy P3: Filaminopathy P4: Myozenin-3-Myopathy P8: PYROXD1-Myopathy Px: CACNA2D3-Myopathy K1: COL6A3-Myopathy Additional Information Muscle Integrity Myopathy (MIM) is a genetic disorder that disrupts muscle function and structure, leading to various clinical signs. While it is not possible to cure genetic disorders, optimized management through diet and exercise can help mitigate symptoms, allowing horses to lead normal lives. References Generatio. Muscle Integrity Myopathy in HorsesEquiSeq. Polysaccharide Storage Myopathy type 2 (PSSM2) Check our FAQs for more information FAQs What breeds are affected by MIM? Almost any breed can be affected by MIM, with common occurrences in breeds like Quarter Horses, Warmbloods, and Thoroughbreds. How is MIM inherited? MIM is caused by multiple genetic variants that disrupt muscle structure and function. These variants are inherited and can predispose horses to developing symptoms of exertional myopathy. How can MIM be managed? While genetic disorders cannot be cured, their symptoms can often be managed through optimized feeding and exercise protocols. Identifying genetic variants through testing allows for tailored management strategies to mitigate symptoms. Visit our full FAQ page for more details.

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DNA test for the Hyperkalemic Periodic Paralysis Disease (HYPP). This DNA test verifies the presence of the recessive HYPP gene.  Sample requirements  30 to 40 hair roots  or 5 mL of blood in K3 EDTA tube Turnaround time 2 to 5  working days Why test? This genetic test helps breeders to identify horses that carrying the HYPP recessive gene. Informed choices can be made for breeding selections, and prevent the born of affected foals. All offspring of Impressive should be tested for HYPP. Because HYPP is dominant disorder, the effects of it can also be transposed to other breeds of horses when intermixing occurs. This test is important in preserving the inherited health of all horses. Horses with suspicious symptoms of the disease should also be tested. Results description  The DNA test verifies the presence of the recessive HYPP gene and presents results as one of the following: N/ –  Normal - Absence of the allele responsible for HYPP. N/H – Affected - Positive heterozygous for HYPP. Presence of one copy of the allele responsible for HYPP. The horse is affected with the HYPP disorder and there is a 50% chance this horse will pass a HYPP allele to its offspring. H/ – Affected- Positive homozygous for HYPP. Presence of two copies of the allele responsible for HYPP. The horse is affected with the HYPP disorder and there is a 100% chance this horse will pass a HYPP allele to its offspring. Additional information Hyperkalemic Periodic paralysis (HYPP) is an inherited disease of the muscle, which is caused by an inherited genetic mutation. A point mutation in DNA exists in the sodium channel gene, which codes for an abnormal channel to be expressed in skeletal muscle. This mutation is passed on to offspring. Sodium channels are “pores” in the muscle cell membrane which control contraction of the muscle fibers. When the defective sodium channel gene is present, the channel becomes “leaky” and makes the muscle overly excitable and contract involuntarily. The channel become “leaky” when potassium levels fluctuate in the blood. This may occur with fasting followed by consumption of a high potassium feed such as alfalfa. Hyperkalemia, which is an excessive amount of potassium in the blood, causes the muscles in the horse to contract more readily than normal. This makes the horse susceptible to sporadic episodes of muscle tremors or paralysis. Severity of attacks varies from unnoticeable to collapse or sudden death. The cause of death is usually respiratory failure and/or cardiac arrest. This genetic defect has been identified in offspring of the American Quarter Horse sire, Impressive. To date, confirmed cases of HYPP have been restricted to descendants of this horse.  HYPP is a dominant disorder meaning both homozygous positive (HH) and heterozygous (nH) horses will be affected. Only homozygous negative (nn) horses are not affected by HYPP.

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DNA test DNA test for the Malignant hyperthermia (MH). This test verifies the presence of the dominant MH gene and presents results as one of the following: Sample 30 to 40 - hair roots - envelope or 5 mL - blood - K3 EDTA tube Turnaround time 2 to 5  working days Results description The DNA test verifies the presence of the dominant MH gene and presents results as one of the following: N/ - Negative for MH.  Absence of the allele responsible for Malignant Hyperthermia (MH). MH/N - Affected - Positive heterozygous for MH. Presence of one copy of the allele responsible for MH. The horse is affected with the MH disorder and can pass the MH allele  to 50% of their progeny when bred. MH/ - Affected - Positive homozygous for MH. Presence of two copies of the allele responsible for MH.  The horse is affected with the MH disorder and will pass the MH allele to 100% of its offspring. Additional information Malignant Hyperthermia or MH is a genetic muscle disorder that affects Quarter Horses and related breeds. Horses with the MH mutation may not show any physical signs of the disorder until triggered by exposure to anaesthesia or extreme exercise or stress. Symptoms can include high temperature, increased heart rate, high blood pressure, sweating, acidosis, and muscle rigidity. Symptoms develop rapidly, and if not treated quickly, this condition can be fatal. MH is inherited as an autosomal dominant trait, so the disorder can be passed on even if only one parent has the defective gene. The mutation can be present along with PSSM and if a horse also has PSSM, the symptoms associated with MH can be more severe. Therefore, testing for both PSSM and MH is recommended for Quarter Horse breeds. Although this condition is rare, testing for MH is recommended in case a horse must undergo anaesthesia. Horses that are known to have the MH mutation can be given medication prior to administering anaesthesia to help reduce the severity of the symptoms.

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Parameter Copper  Sample 5 mL - blood - serum tube   Turnaround time 2 to 5 working days

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Ensure your horse's high health and performance with our comprehensive diagnostic profile. This profile includes three tests that follow ISO17025 standards, ensuring the highest level of accuracy and reliability. Tests Included Equine Infectious Anemia Virus (EIAV), AGID - Coggins Test Babesia caballi, C-ELISA Theileria equi, C-ELISA Test Details Pathogens Detected: EIAV, Babesia caballi, and Theileria equi. Sample Requirements: 5 mL of blood, serum, or plasma collected in a dry or EDTA tube. Turnaround Time: Standard Processing: Results within 2-5 working days after sample receipt. Why Choose This Profile? This diagnostic profile is essential for maintaining high health and performance in horses. It includes comprehensive testing for Equine Infectious Anemia Virus, Babesia caballi, and Theileria equi, ensuring early detection and management of these critical health conditions. How It Works How It Works 🛒 Purchase the Test: Select and buy the test online. 📧 Receive Instructions: After payment confirmation, receive instructions for sample collection. ✨ Sample Collection: Your veterinarian collects the sample. 📄 Download Submission Form: Download the printable submission form here. 📮 Send Samples: Send to our lab by regular mail or express delivery to:Equigerminal LabRua Eduardo Correia, Nº133030-507 Coimbra, PORTUGAL 📄 Receive Results: Get the result certificate by email. If you need assistance, contact us at support@equigerminal.pt. More Info View More Info For more detailed information on this diagnostic profile, including sample collection and submission instructions, please visit our website or contact our support team. Visit our detailed diagnosis page for more information. FAQs View FAQs How do the tests work? The profile includes the AGID (Coggins) test for EIAV, and cELISA tests for Babesia caballi and Theileria equi, following ISO17025 standards for high accuracy and reliability. What types of samples are required for the tests? 5 mL of blood, serum, or plasma collected in a dry or EDTA tube. How long does it take to get the test results? The turnaround time is 2-5 working days after the sample is received in the laboratory. What should be done if a horse tests positive? Horses that test positive should be isolated to prevent the spread of the disease. Follow biosecurity measures and consult with a veterinarian for appropriate treatment and management. How can these diseases be prevented? Prevention involves regular testing, controlling tick exposure, using repellents, acaricides, and regular inspections, and following biosecurity measures.  

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