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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Agouti locus controls distribution of black pigment throughout the coat. This DNA test determine if a horse is A/A, A/a or a/a for the Agouti.  To determine base colour Extension and Agouti testing are needed.   Buy the Base colour test and get DNA tests for Agouti (A) and Extension (E) loci. Sample requirements  and submission form 30 to 40  hair roots or 5 mL of blood in a K3 EDTA tube    Get the sample submission form here   Turnaround time Standard processing - Results in 3-5 working days after sample arrival at the laboratory. Clients organize and support the costs of sending the samples to the laboratory. PREMIUM processing - Results in 1 days after sample arrival. Includes free express delivery** . The laboratory organizes Express shipping with pick-up of the package at the client's address and delivery at the laboratory. ** PREMIUM SERVICES INCLUDE AN EXPRESS SHIPPING DELIVERY FOR EUROPEAN COUNTRIES FROM NON-REMOTE REGIONS. Check here to know if you are in a remote European region. For remote/outreach regions EXTRA fees are applied.    Why test? Agouti is not shown physically on red (e/e) horses. Therefore, a breeder might want to test a chestnut base horse to see if it is an Agouti carrier. Testing bay horses might be desired to see whether the horse carries one (A/a) or two (A/A) copies of the Agouti allele. A homozygous Agouti (A/A) horse will always pass Agouti to its offspring whereas a heterozygous (A/a) horse will have a 50% chance of passing on the gene. Another reason to test for Agouti might be if there is some doubt whether a black horse is truly black or a very dark bay. The effects of other genes might also make it hard to tell if Agouti is present or not. Results description A/A - Bay or Brown - Dominant Homozygous for Agouti. Black pigment restricted to the points. The horse cannot have black foals regardless of the coat color of the mate. The basic coat color will be bay or brown in the absence of other color modifying genes. A/a - Bay or Brown - Heterozygous for Agouti. Black pigment distributed in point pattern. The horse can transmit either (A) or (a) allele to its offspring. The basic coat color will be bay or brown unless modified by other coat color modifying genes. a/a - Black - Recessive homozygous for Agouti. Black pigment distributed uniformly. The basic coat color will be black in the absence of other coat color modifying genes.   Additional information The Agouti gene controls the distribution of black pigment. This pigment can be either uniformly distributed or distributed to “points” of the body (ear rims, lower legs, mane, tail). Agouti has been linked to a deletion of 11 nucleotides in the Agouti locus. The 11 nucleotide deletion of this gene is the recessive form of the gene. Only when the agouti gene is homozygous for the deletion (aa) is the black pigment evenly distributed. Heterozygous (A/a) or homozygous for the absence of the 11 nucleotide deletion (A/A) results in point distribution of black pigment. Agouti has no effect on homozygous positive red factor (ee) horses as there has to be black pigment present for agouti to have an effect.    

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Our Equine Piroplasmosis qPCR Test provides accurate detection of the genome of Babesia caballi and Theileria equi, the primary agents responsible for Equine Piroplasmosis. This test is ideal for early infection detection and during febrile peaks. Product Overview qPCR Test: Detects the genome of Babesia caballi and Theileria equi, providing highly sensitive detection of piroplasms. Sample Requirements 5 mL of blood - collect blood in K3 EDTA tube for qPCR Turnaround Time Standard Processing: Results in 2 working days after sample arrival at the laboratory. Clients are responsible for organizing and covering the costs of sending the samples to the laboratory. What is Piroplasmosis? Equine piroplasmosis (EP) is a tick-borne disease of horses caused by the intraerythrocytic protozoan parasites Babesia caballi and Theileria equi. These agents are transmitted through a tick vector. Infected animals may remain carriers of these blood parasites for long periods and act as sources of infection for other ticks. The parasites are found in southern Europe, Asia, countries of the Commonwealth of Independent States, Africa, Cuba, South and Central America, and parts of the southern United States. Clinical Signs Incubation period: 12 to 19 days for T. equi and 10 to 30 days for B. caballi. Per-acute form: Rare, with only clinical observation being moribund or dead animals. Acute form: Fever, reduced appetite, elevated respiratory and pulse rates, congestion of mucous membranes, dark red urine, smaller and drier faecal balls, anaemia, and/or icterus. Subacute form: Similar to acute form but with weight loss and intermittent fever. Mucous membranes may vary from pale pink to bright yellow. Chronic form: Mild inappetence, poor performance, weight loss. Documented case fatality rates vary from 10–50%. Transmission Babesia caballi sporozoites invade red blood cells (RBCs), transforming into trophozoites which divide into merozoites, capable of infecting new RBCs. B. caballi can be found in various organs of tick vectors and transmit transovarially. Theileria equi sporozoites, inoculated into horses via a tick bite, invade lymphocytes, develop into schizonts, and release merozoites that invade RBCs. T. equi develop in the salivary glands of the tick vector and are not transmitted transovarially. Transmission is also possible through mechanical vectors contaminated by infected blood. Prevention Sanitary Prophylaxis: Testing and controlling tick exposure, using repellents, acaricides, and regular inspections, controlling and eradicating the tick vector, and quarantining EP-positive animals. Medical Prophylaxis: No current biological products are available. Antiprotozoal agents only temporarily clear T. equi from carriers. 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 the qPCR Test, 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 does the qPCR test work? The qPCR test detects the genome of Babesia caballi and Theileria equi, providing a highly sensitive and specific method for identifying the presence of the pathogens. What types of samples are required for the test? The qPCR test requires 5 mL of blood collected in a K3 EDTA tube. How long does it take to get the test results? The turnaround time for the qPCR test is typically 2 working days from the receipt of the sample in the laboratory. What should be done if a horse tests positive for Piroplasmosis? 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 Piroplasmosis be prevented? Prevention involves testing and controlling tick exposure, using repellents, acaricides, and regular inspections, controlling and eradicating the tick vector, and quarantining EP-positive animals.  

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Breeding mare Profile includes 2 tests:  Coggins Test (accredited test for AIE) Taylorella equigenitalis (CEMO) testing by qPCR Sample requirements Test Sample type Collection Volume (mL) Coggins test Serum/ Whole blood Serum tubes 1 EVA PCR EDTA blood K3 EDTA tube  1 CEMO PCR 2 genital swabs: clitoral fossa and clitoral sinuses Synthetic swab without media N.A   Turnaround time 2 to 5  working days

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