DNA test DNA test for the Glycogen Branching Enzyme Deficiency (GBED). This DNA test verifies the presence of the recessive GBED allele. Sample 30 to 40 - hair roots - envelope or 5 mL - blood - K3 EDTA tube Turnaround time 2 to 5  working days Why test? This DNA test identify inapparent carriers of the GBED fatal disorder.  In breeding selection is recommended to avoid the crossbreeding of two GBED inapparent carriers to prevent in utero abortion of foetus and the birth of foals affected by GBED.  To confirm GBED in affected foals. DNA testing provide important tools for informed choices about breeding selections to prevent abortion and the birth of affected foals.    Frequency and affected breeds More frequent in Paint Horses and Quarter horses related breeds. A prevalence of  7,1% and 8,3% in the Paint and Quarter Horse breeds, respectively (Wagner et al., 2006).   Results description The DNA test verifies the presence of the recessive GBED alleles and presents results as one of the following:  N/ - Negative for GBED. Absence of the defective allele responsible for GBED. GBED/N - Carrier - Positive heterozygous for GBED. Presence of one copy of the allele responsible for GBED.  The horse is a carrier for GBED and can pass on a copy of GBED allele to their progeny when bred. GBED/ - Affected - Positive Homozygous for GBED. Presence of two copies of the allele responsible for GBED.  The animal is affected by GBED disorder. GBED is lethal causing abortion and/or  neonatal mortality.   Additional information Glycogen Branching Enzyme Deficiency (GBED) fatal condition caused by an autosomal recessive genetic disorder that results in the bodies' inability to properly store sugar in the glycogen form. In a normal horse, the body stores sugar as energy by converting glucose to glycogen. This genetic disorder  affects the production of the enzyme needed to branch the glycogen structure, preventing the horse from being able to adequately store sugar in the glycogen form. This means that the horse will not be able to store enough energy to fuel important organs, such as the muscles and brain. Unfortunately, GBED is always fatal.  GBED often causes the foetus to be aborted in utero. When born most affected foals will die in the first weeks of age.  Research studies showed that as many as 2,5% of aborted Quarter Horse foetus were homozygous for the GBED mutation (Wagner et al., 2006).  Foals born which are affected by GBED suffer from a range of clinical signs associated with this lack of sugar, such as low energy, weakness and difficulty rising.  Other clinical signs include low body temperature, contracted muscles, seizures, and sudden death.   REFERENCES Tryon RC, Penedo MC, McCue ME, Valberg SJ, Mickelson JR, Famula TR, Wagner ML, Jackson M, Hamilton MJ, Nooteboom S, Bannasch DL. Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. J Am Vet Med Assoc. 2009 Jan 1;234(1):120-5. doi: 10.2460/javma.234.1.120. PubMed PMID: 19119976.DOI: 10.2460/javma.234.1.120 Wagner ML, Valberg SJ, Ames EG, Bauer MM, Wiseman JA, Penedo MC, Kinde H, Abbitt B, Mickelson JR. Allele frequency and likely impact of the glycogen branching enzyme deficiency gene in Quarter Horse and Paint Horse populations. J Vet Intern Med. 2006 Sep-Oct;20(5):1207-11. PubMed PMID: 17063718.DOI: 10.1892/0891-6640(2006)20[1207:afalio]2.0.co;2

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DNA test DNA test for the Cerebellar Abiotrophy (CA) – Pure and part-bred Arab horses. This test verifies the presence of the recessive CA mutation. Sample 30 to 40 - hair roots - envelope or 5 mL - blood - K3 EDTA tube Turnaround time 2 to 5  working days Why test? This DNA test determines CA clear, carrier or affected status. Informed choices can be made for breeding selections, and prevent the born of affected foals. CA is sometimes confused with Wobbler’s syndrome, Equine Protozoal Myeloencephalitis (EPM) and injury-related problems, such as a concussion, so this DNA test could help on the diagnostic. Results description  The DNA test verifies the presence of the recessive CA mutation and presents results as one of the following: N/ – Negative for CA. Absence of the allele responsible for CA. N/CA – Carrier - Positive heterozygous for CA. Presence of one copy of the allele responsible for CA.  The horse is a carrier for CA disorder and can pass on a copy of CA allele to 50% of their progeny when bred. CA/– Affected - Positive Homozygous for CA. Presence of two copies of the allele responsible for CA.  The horse is affected by  CA disorder and can pass the CA allele to 100% of their progeny when bred. Additional information Cerebellar Abiotrophy (CA), is a genetic neurological disease in certain species of animals. The disorder manifests itself when Purkinje cells, the neurons that affect balance and coordination, are present in the cerebellum of the brain. This condition known to affect Arabian horses as well as Miniature horses, the Gotland Pony and possibly the Oldenburg. In most cases, foals appear normal at birth, and symptoms generally become noticeable after four months. There have been reported cases where the condition was observed shortly after birth, while others report symptoms developing after the first year. Horses affected with CA tend to startle easily and often fall. Common symptoms include head tremor, a lack of balance and other neurological issues. Affected horses may develop a wide-based stance of the forelegs and difficulty rising from a reclining position. In horses, CA is believed to be linked to an autosomal recessive gene. This means that it is not sex-linked and the allele has to be carried and passed on by both parents in order for an affected animal to be born. Horses that only carry one copy of the gene may pass it on to their offspring, despite being perfectly healthy themselves and having no symptoms of the disease. Because the disorder is recessive, the allele for CA may pass through multiple generations before it is expressed.

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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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  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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DNA test The DNA test verifies the presence of the mutation associated to the Overo.   Frame Overo is a highly desirable white pattern gene. Sample 30 to 40 - hair roots - envelope or 5 mL - blood - K3 EDTA tube Turnaround time 2 to 5  working days Why test? The relationship between Lethal White Foal Syndrome (LWFS) and the frame overo coat pattern is not always straightforward. Usually carriers of LWFS are frame overo in pattern, and have 1 copy of the mutated allele (nL). But not all frame overo horses carry the mutated allele, some have the genotype (nn). And some horses with other coat patterns (including solid coloured paints and tobiano) have been found to carry the mutated allele. It should also be remembered that not all white foals have the genotype (LL) ,and may not be affected by LWFS. Results description The DNA test verifies the presence of the mutation associated to the Overo and presents results as one of the following: N/ - Non-Overo horse. O/N - Frame Overo horse. Horse is heterozygous for the dominant gene causative of frame Overo. A characteristic Overo coat pattern is present in O/N all horses with a copy of frame Overo and will pass this allele to 50% of offspring. Matting two Frame Overo horses has a 50% chance to generate Lethal White foals and should be avoided. O/ – A Lethal White Foal Syndrome (LWFS). Homozygous for frame Overo are lethal and newborns survive less than a week old. Additional information Frame Overo is a highly desirable white pattern gene. All Frame Overo horses carry a single inherited copy of the Ile118Lys EDNRB mutation. This mutation causes pigment loss, producing white markings on certain areas of the horse. While the mutation produces visually desirable horses, it is also linked to a fatal condition known as Lethal White Foal Syndrome (LWFS), whereby a foal is born almost pure white in appearance, and dies within its first few days of life. Correct breeding can avoid this occurrence. LWFS occurs when a horse inherits two copies of the mutated gene, one from both parents. Whereas horses with just one copy of the gene will live normally and exhibit the desirable pattern. A horse with two copies of the mutated gene will suffer intestinal abnormalities caused by undeveloped nerves of the foal’s digestive system. These animals die within the first 72 hours of being born and are typically euthanised sooner for humane reasons. Frame Overo horses which carry just a single copy of the gene, will pass one copy of it to their foals approximately 50% of the time when bred. Therefore, when breeding an Overo horse to a solid non-Overo horse, the foal can only inherit one copy. However, if two Overo horses are bred together they could potentially both pass the Overo gene to the foal, meaning it inherits two copies. Horses which inherit two copies of Frame Overo will suffer the Lethal White condition. Proper mating must be carried out to ensure that two frame Overo horses do not breed. This will prevent any risk of the foal inheriting two copies of the mutated gene.

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DNA test The DNA test verifies the presence of the dominant LP gene.  The LP gene is associated to high risk of Equine Recurrent Uveitis (ERU) and Congenital Stationary Night Blindness (CSNB). 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 LP Gene (designated LP) and presents results as one of the following:                                                             N/ - Negative for LP. Absence of the dominante LP gene, non spotted horse. Lower risk to develop Equine Recurrent Uveitis (ERU) and Congenital N/ Stationary Night Blindness (CSNB) associated to Leopard. LP/N - Positive heterozygous for LP. Presence of one copy of the incomplete dominant LP gene responsible spotted coat (Appaloosa coat pattern). Horses have high risk to develop Equine Recurrent Uveitis (ERU). The horse can pass the LP gene to 50% of their progeny when bred. LP/ - Positive homozygous for LP. Presence of two copies of the incomplete dominant LP gene responsible for spotted coat (Appaloosa coat pattern). Additionally horses have highest risk to develop Equine Recurrent Uveitis (ERU) and Congenital Stationary Night Blindness (CSNB). The horse will LP/LP pass the LP gene to 100% of its offspring. Risk for ERU associated to LP is evaluated LP/LP > LP/N > N   Additional information The white patterns called Leopard Complex (LP), also know as Appaloosa spotting, has an high variable expression ranging from absent to extreme white patterning.  The expression of Leopard Complex includes several effects on the horse's coat: speckled/mottled skin around the eyes, muzzle, anus, genitalia, and eyes, and progressive roaning (varnish roan) of pigmented coat areas with age. White spotting may also be present, with pigmented leopard spots tending to occur on the white spotting background of heterozygous horses. The inheritance of this coat colour trait is incomplete dominant. The amount of white present is not dosage related, such that homozygous horses can have minimal expression of white patterning. The variability in the amount of white on leopard complex patterned horses is controlled by other genes, one of which is Pattern 1.  /PATN1, the coat pattern spotting.    Horses that are homozyous for the Leopard Complex  develop Congenital Stationary Night Blindness (CSNB) which is the inability to see in low to no-light conditions. Equine Recurrent Uveitis (ERU), also known as moon blindness, is also associated to the LP genetic variant. ERU is characterised by repeated episodes of inflammation of the iris, ciliary body, and choroid. The cumulative effects of the immune mediated process can lead to glaucoma, cataracts, and complete loss of vision.  ERU is the most common cause of blindness in horses. The LP test is the most effective genetic test to ascertain risk for ERU.  Risk for ERU based on this genetic test can be evaluated as LP/LP > LP/N > N/N.  Horses homozygous for LP mutation are the highest risk of developing ERU. Horses heterozygous for LP mutation are at higher risk of developing ERU than those with the mutation. The LP variant is closely identified to the Appaloosa breed, though has indicated has a very ancient genetic variant. European cave paintings have recorded spotted horses and archaegenetic studies have identified the LP genetic variant in European horses of the Pleistocene and Copper Age. The LP genetic variant can be found in many different breeds such as pony of Americas breeds, British Spotted Pony, Knabstrupper, Noriker, Tannu Tuva Pony, American Miniature Horse, Mustang breeds and Tiger horses .  References Bellone, R.R., Holl, H., Setaluri, V., Devi, S., Maddodi, N., Archer, S., Sandmeyer, L., Ludwig, A., Foerster, D., Pruvost, M., Reissmann, M., Bortfeldt, R., Adelson, D.L., Lim, S.L., Nelson, J., Haase, B., Engensteiner, M., Leeb, T., Forsyth, G., Mienaltowski, M.J., Mahadevan, P., Hofreiter, M., Paijmans, J.L., Gonzalez-Fortes, G., Grahn, B., Brooks, S.A.: Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS One 8:e78280, 2013.  Bellone RR. Genetic Testing as a Tool to Identify Horses with or at Risk for Ocular Disorders. Vet Clin North Am Equine Pract. 2017;33(3):627–645. doi:10.1016/j.cveq.2017.08.005 Pruvost M. et al.. Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art. Proc. Natl. Acad. Sci. 108, 18626–18630 (2011). [PMC free article] [PubMed] [Google Scholar]  

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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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About the EquiSample Express Kit Tailored to Specific Test: The EquiSample Express Kit is customized based on the test purchased from Equigerminal. Complete Kit: Includes all necessary materials and prepaid express return shipping. Versatile Use: Suitable for both home tests and veterinary tests. Sample Collection: Collect samples yourself or consult a vet if a prescription is needed. Standardized Results: Ensures consistency without hassle, freeing up your vet to focus on care. Ideal for International Shipments: Perfect for tests requiring rapid sample delivery, like hormone assays, where sample stabilizers can't be used. How It Works 🛒 Purchase the Test and Kit: Select and buy the test and kit online. 📦 Receive the Kit: You will receive the kit at home with all necessary materials and prepaid express return shipping. 📄 Download the Submission Form: If you choose not to purchase the EquiSample Kit, download the submission form here. 📮 Return the Sample: Place the collected sample in the prepaid express envelope and use the door pickup service. If you did not purchase the kit, you are responsible for shipping the sample to our lab via regular mail. 📄 Receive Results: Get the result certificate by email. If you need assistance, contact us at support@equigerminal.pt. Types of Tests Home Tests: For healthy animals, these tests do not require invasive samples or veterinary prescriptions. Examples include: Genetic Tests: Saliva/swabs, mane root samples, and other non-invasive samples Parasitic Tests: Stool samples Nutritional Tests: Non-invasive samples Food Tests: Analysis of various food samples Veterinary Tests: For infectious diseases or sick animals, these tests require invasive sample collection (e.g., blood) and must be prescribed by a veterinarian. Veterinarians can also request specific kits and materials. Home Test Kits Include Genetic Tests: Includes a sealed card or envelope for mane samples, saliva/swabs, gloves, a sealed bag, and submission forms. Parasitic Tests: Includes tools for stool sample collection. Nutritional and Food Tests: Includes the necessary materials for collecting non-invasive samples and submission forms. Veterinary Test Kits Include For infectious disease tests, includes materials for invasive sample collection (e.g., blood) and submission forms. Veterinary-specific materials as requested. Pricing and Delivery Time Portugal & Spain : Delivery in 1 business day International: Delivery in 1-2 business days (Valid only for Europe in non-remote areas. For other regions, please contact us.) Multiple Animal Testing You can purchase kits for testing a single animal or multiple animals. The cost of transportation is unitary, meaning you only pay for shipping once, regardless of the number of animals being tested. FAQs View FAQs What is included in the EquiSample Kit? Each kit includes specific materials based on the type of test purchased, such as swabs, sealed tubes, gloves, submission forms, and a prepaid return envelope. How do I collect a sample? Detailed instructions for sample collection are provided with each kit. For home tests, follow the instructions carefully. For veterinary tests, your veterinarian will handle the sample collection. Can I purchase additional collection kits? Yes, you can purchase additional EquiSample Kits with all necessary materials and prepaid return shipping for a hassle-free experience. How do I return the sample? If you purchase the EquiSample Kit, place the collected sample in the provided prepaid envelope and drop it off at your national postal service (for Standard Kit) or use the door pickup service (for Express Kit). If you do not purchase the kit, you are responsible for shipping the sample to our lab via regular mail. How long does it take to receive the results? The turnaround time for most tests is typically 2 to 5 working days from the receipt of the sample in our laboratory. Who can I contact for support? If you need assistance, contact our support team at support@equigerminal.pt. Additional Information View More Info For more detailed information on the EquiSample Kits, including sample collection and submission instructions, please visit our website or contact our support team at support@equigerminal.pt. Visit our website for more details.

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DNA test DNA test for the Lavender Foal Syndrome (LFS) – Pure and part-bred Arab horses. This test verifies the presence of the recessive LFS gene. Sample 30 to 40 - hair roots - envelope or 5 mL - blood - K3 EDTA tube Turnaround time 2 to 5  working days Why test? This genetic test determines LFS clear, carrier or affected status. Informed choices can be made for breeding selections, and prevent the born of affected foals. Results description The DNA test verifies the presence of the recessive LFS gene and presents results as one of the following:  N/ – Non-carrier of the LFS gene. Tested negative for the LFS gene. N/LFS - Heterozygous horse for LFS, both the normal and LFS alleles were detected. The horse is a carrier of LFS genetic disorder and there is a 50% chance this horse will pass a LFS allele to its offspring LFS/ – Homozygous horse for LFS, carrier of two copies of the LFS gene. The horse is affected with the LFS genetic disorder. Additional information Lavender Foal Syndrome (LFS) is a recessive genetic disorder. Affected foals born with the unique diluted coat color that can appear to be pale lavender, pale pink or silver. This foals-often have a difficult delivery, problems standing at birth and usually have episodes where they rigidly extend their limbs, neck and back. These episodes tend to resemble a seizure, although the affected foal does not seem normal between episodes. All affected foals are usually euthanised within days or weeks of birth. LFS is rare and is considered to be an autosomal recessive trait. “Autosomal” means that there is no sex linkage, so both males and females can be equally affected. “Recessive” means that in order for a foal to be affected, it must have received two copies of the mutated gene, inheriting one copy from each parent. Horses that have one copy of the mutated gene, in combination with one copy of the normal gene, are physically normal but are considered carriers and have a 50% probability, each time they are bred, of passing the mutation along to their offspring. The SNP mutation that causes LFS has not been detected in other breeds.  Testing for this mutation in horses with no Arabian blood lines is not recommended. However, in cases where pedigree is not known, testing could be a useful tool to prevent possible affected foals.

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DNA test for the Congenital Myotonia (CM). This test verifies the presence of the recessive cm gene. Sample  30 to 40 hair roots or 5 mL of blood in a K3 EDTA tube Turnaround time 2 to 5  working days Why test? This genetic test helps breeders to identify horses that carrying the cm recessive mutation. Informed choices can be made for breeding selections, and prevent the born of affected foals. Results description The DNA test verifies the presence of the recessive cm gene and presents results as one of the following: N/ - Normal for Congenital Myotonia (CM).  Absence of the affected variant responsible for Congenital Myotonia N/cm - Carrier of Congenital Myotonia (CM). Presence of one copy of the genetic variant causative of Congenital Myotonia. The horse is clinical healthy and can pass the genetic variant responsible for CM to 50% of their progeny when bred. cm/ - Affected by CM. Presence of two copies of the genetic variant causative of Congenital Myotonia. The horse is affected with Congenital Myotonia and will pass genetic variant to 100% of its offspring. Additional information Congenital Myotonia is an inherited neuromuscular disorder characterised by the slow relaxation of muscles after voluntary contraction or electrical stimulation. This disorder has been identified in New Forest ponies and it is caused by an autosomal recessive mutation, which is responsible for the function of chloride ion channels in the skeletal muscle. Carriers of the mutation appear normal, but when two carriers are mated, a 25 percent chance exists that an affected foal will be produced.  Affected foals appear normal at birth. The first symptoms are recurrent episodes of recumbency and difficulty rising to its feet as a result of muscle stiffness. They occur during the first weeks of age and usually increase in the following months. Picking up the limbs is not possible because of the muscle rigidity. The eye-bulb may be retracted due to the myotonia.

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DNA test DNA test for the Severe Combined Immunodeficiency (SCID). SCID is an inherited disease seen in pure and part-bred Arab horses. Sample 30 to 40 - hair roots - envelope or 5 mL - blood - K3 EDTA tube Turnaround time 2 to 5  working days Why test? The DNA test for SCID helps breeders to identify the animals that are carriers of the SCID mutation. This information allows breeders to prevent two carriers from breeding, which reduce the chances of producing an SCID foal. Continued breeding of horses that are carriers of the SCID gene is now possible without the worry of producing SCID foals. For example, carrier stallions that possess highly desirable traits can now be selectively bred to clear (homozygous normal) mares (and vice versa). The resulting foals would have an equal chance of being a carrier or clear of SCID, but would definitely not be affected. The foals could be tested anytime after birth to determine their SCID genotype and future matings could be rationally planned. Results description The DNA test verifies the presence recessive SCID mutation and presents results as one of the following: nn – Non-carrier of the SCID gene.Tested negative for the SCID mutation. nSCID – Heterozygous horse for SCID gene, both the normal and SCID alleles were detected. The horse is a carrier of SCID genetic disorder and there is a 50% chance this horse will pass a SCID allele to its offspring SCID SCID – Carrier of two copies of the SCID gene. Homozygous horse for SCID mutation. The horse is affected with the SCID genetic disorder. Additional information Severe Combined Immunodeficiency Disease (SCID) is an inherited disease seen in pure and part-bred Arab horses. Animals with this inherited condition have an enhanced susceptibility to infection and first show signs of disease at between two days and eight weeks of age. Clinical diagnosis of the disease is not straightforward as the symptoms, such as raised temperature, respiratory complications and diarrhoea, are typical of new-born foals with a range of infections. Foals affected by SCID always die from the disorder within the first six months of life. This happens regardless of the level of veterinary care. SCID is therefore a distressing condition for the effected animal and the owners or caregivers, and results in financial loss due to dead foals and veterinary expenses. The disorder is recessive, which means that a horse must be homozygous positive or have two copies of the defective gene to suffer from the disease. Consequently both the sire and the dam must possess at least one copy of the mutated gene in order for the offspring to be afflicted. Offspring born with one copy of the defective gene and one non-defective copy are considered a carrier and have a 50% chance of passing the defective gene on. A number of studies have attempted to estimate the frequency of SCID carriers in the Arab horse population. Most sources speculate that the percentage of Arab foals which die of SCID is 2-3%. If breeding is random then it would imply that roughly 28-35% of Arab horses are carriers. However, most breeding is rather selective, making the true frequency of carriers in the population somewhat unclear.

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DNA test DNA test for the Overo gene that is associated with the Lethal White Foal Syndrome (LWFS). Sample 30 to 40 - hair roots - envelope or 5 mL - blood - K3 EDTA tube Turnaround time 2 to 5  working days Why test? The relationship between Lethal White Foal Syndrome (LWFS) and the frame overo coat pattern is not always straightforward. Usually carriers of LWFS are frame overo in pattern, and have 1 copy of the mutated allele (nL). But not all frame overo horses carry the mutated allele, some have the genotype (nn). And some horses with other coat patterns (including solid coloured paints and tobiano) have been found to carry the mutated allele. It should also be remembered that not all white foals have the genotype (LL) ,and may not be affected by LWFS. Results description The DNA test verifies the presence of the mutation associated to the Overo and presents results as one of the following:  N/ – Non-Overo or ‘solid’ horse O/N – Frame Overo horse. Horse carries just a single copy of frame Overo. Since frame Overo is a dominant gene, the coat pattern should be present in all horses with a single copy of the mutated gene. O/ – A Lethal White Foal Syndrome (LWFS). Foal carries two copies, homozygous for frame Overo. Since no living frame Overo horse more than a week old will test as being homozygous, it applies only to horses in the Lethal White condition. Additional information Frame Overo is a highly desirable white pattern gene. All Frame Overo horses carry a single inherited copy of the Ile118Lys EDNRB mutation. This mutation causes pigment loss, producing white markings on certain areas of the horse. While the mutation produces visually desirable horses, it is also linked to a fatal condition known as Lethal White Foal Syndrome (LWFS), whereby a foal is born almost pure white in appearance, and dies within its first few days of life. Correct breeding can avoid this occurrence.  LWFS occurs when a horse inherits two copies of the mutated gene, one from both parents. Whereas horses with just one copy of the gene will live normally and exhibit the desirable pattern. A horse with two copies of the mutated gene will suffer intestinal abnormalities caused by undeveloped nerves of the foal’s digestive system. These animals die within the first 72 hours of being born and are typically euthanized sooner for humane reasons. Frame Overo horses which carry just a single copy of the gene, will pass one copy of it to their foals approximately 50% of the time when bred. Therefore, when breeding an Overo horse to a solid non-Overo horse, the foal can only inherit one copy. However, if two Overo horses are bred together they could potentially both pass the Overo gene to the foal, meaning it inherits two copies. Horses which inherit two copies of Frame Overo will suffer the Lethal White condition. Proper mating must be carried out to ensure that two frame Overo horses do not breed. This will prevent any risk of the foal inheriting two copies of the mutated gene.

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