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 The DNA test verifies the presence of the chromosomal inversion.  The Tobiano coat pattern usually involves some white on all four legs and rounded white spots on the body with sharp, clean edges. 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 can confirm is the horse is heterozygous (To/N) or homozygous (To/) for the Tobiano gene. For breeding purposes, homozygous Tobiano horses are highly desirable as they are guaranteed to produce Tobiano foals regardless of their mate. Since Tobiano is only responsible for the white markings of a so called “colored” horse, the test does not determine the horse’s base-color. This is determined using the extension test. The two tests in conjunction not only verify the likelihood of Tobiano being passed to foals, but also the likelihood the foals will be piebald or skewbald. Results description The DNA test verifies the presence of the chromosomal inversion and presents results as one of the following: N/ – Non-tobiano horse. To/N – Positive for the dominant Tobiano gene mutation, carrier of a single inherited copy of Tobiano. Horse’s base color may be modified to varying degrees by the Tobiano markings. To/ – Positive for dominant Tobiano gene mutation, carrying two inherited copies of Tobiano. Will always pass Tobiano to foals. For breeding purposes, homozygous Tobiano horses are highly desirable as they are guaranteed to produce Tobiano foals regardless of their mate. Additional information The Tobiano coat pattern usually involves some white on all four legs and rounded white spots on the body with sharp, clean edges. The head of the horse is usually colored and will not have white caused by the Tobiano gene. The white on the body will generally cross the top-line of the horse. Although white often incorrectly referred to as adding color it is actually a deletion of color. Tobiano is the result of a chromosomal inversion, affecting regulatory regions of the KIT gene. The Tobiano coat pattern is governed by the dominant KIT gene. Only one copy of Tobiano gene (To/N) is required to express Tobiano coat pattern. Homozygosity of the Tobiano gene (To/) may show visual clues (“ink spots” or “paw prints”) but only genetic testing will tell you more conclusively that the horse is homozygous for the Tobiano gene. When there is no presence of the Tobiano gene (N), the Tobiano coat pattern is not possible.  

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8 panel genetic test for coat colour with results in 5 to 10 working days.   Includes 8 coat colour genetic markers:  2 base colour - Agouti, Extension; 5 dilutions - Cream, Pearl, Champagne, Silver and Dun (D, nd1, nd2) and the Grey* (G/G, G/N or N/N) depigmentation gene. Our Grey test in panels provide the number of copies of the Grey gene (G/G, G/N, N/N) A Genetic Colour Certificate - Coat Genotype and Offspring Prediction of coat colour is provided Sample type: 30 to 40 hair roots  or 5 mL of blood  (K3 EDTA tube) Turnaround time 5 to 10 working days   Additional information DNA tests for coats can be an important tool for selection, elimination of coat-related diseases and enhancing your stud farm. There are various coat colours and tones in the horse species. Judging coat colour by eye is always subjective and can be influenced by a number of environmental factors (light exposure, time of year and feeding) and it doesn’t allow us to predict with any confidence that the “colour” will be passed down. Genetic determination of coat colour can be done correctly in a laboratory using DNA tests. This method allows us to determine with rigour and objectivity the horse´s coat colour and also forecast the potential transmission of “colour” to offspring. Currently more than 16 gene variants have been identified that can influence this phenotypic characteristic.  

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DNA test The DNA test verifies the presence of the dominant (PATN1) mutation.  Sample 20 to 30 - 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 (PATN1) mutation and presents results as one of the following: N/ - Negative for PATN1.  Absence of the dominante PATN1 gene - non spotted horse. PATN1/N - Positive heterozygous for PATN1 (Dominant). Presence of one copy of the dominant PATN1 gene responsible spotted coat. The horse can pass the PATN1 variant to 50% of their progeny when bred. PATN1/ -  Positive homozygous for PATN1 (Dominant). Presence of two copies of the dominant PATN1 gene responsible for spotted coat.  The horse will pass the PATN1 gene to 100% of its offspring.   Additional information

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DNA test The DNA test verifies the presence of the grey mutation. Grey is the dominant gene responsible for the gradual and progressive de-pigmentation (fading) of the carrying horse. Sample 5 mL - blood - K3 EDTA tube Turnaround time 2 to 5  working days Why test? This genetic test can help breeders that are interested in specifically breeding grey foals. Homozygous grey specimens are ideal as they will always transmit the grey gene when bred, thus guaranteeing eventual grey progeny. For the breeder that wants to  “breed-out” the grey modifier to gain non-fading foals may hope for heterozygous grey horses. Some breed-types have a large percentage of grey stock which through historical lineage may harbour colours and dilutions that are ‘hidden’ by the masking effect of the grey. Insight into a foal’s potential to fade: since grey may cause slow de-pigmentation, it may not be visually apparent whether or not a newborn foal will eventually fade to grey. The de-pigmentation process may take many years and therefore DNA testing is useful in the cases whereby a foal is born of one or more grey parents and verification of the presence of grey is necessary. Results description The DNA test verifies the presence of the grey mutation and presents results as one of the following: N/ – Non-grey horse. Negative for grey. Horse will not turn grey. G/N - Grey horse. Positive for dominant grey gene, carrying a single inherited copy. Carrier’s coat modified and will eventually become de-pigmented. Heterozygous grey horses are statistically likely to pass the gene to 50% off their progeny when bred. G/ - Grey horse. Positive for dominant grey gene, carrying two inherited copies. Carrier’s coat modified and will eventually become de-pigmented. Homozygous grey horses are genetically bound to pass the gene to 100% of their progeny when bred, so all foals will receive grey and fade-out. Additional information Grey is the dominant gene responsible for the gradual and progressive de-pigmentation (fading) of the carrying horse. Grey cannot be considered a base-color, or a dilution, but rather a gene which slowly removes pigment from the coat.  This gene is considered to be the ‘strongest’ of all coat modifiers, and acts upon any base-color regardless of the carrying horse’s phenotype. The fading process itself may last for years, but once hair is de-pigmented, the horse’s original colouring will never return. Since grey is a dominant gene, where it is present it is expressed. However, the final phenotype of the carrier will vary from horse to horse. Some grey horses fade to full de-pigmentation (almost pure white) whereas others may be ‘fleabitten’. Fleabitten refers to grey horses with tiny non-faded spots or ‘fleabites.’ The grey carrying horse may also experience de-pigmentation of the skin itself, and before skin is fully faded may display ‘mottling’. Equine melanomas occur most often in grey horses, and it is expected that at least 80% of grey horses will develop melanoma.

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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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Buy a Base colour test and find out if your horse's base colour is Black, Bay or Chestnut. Results within 24 h are available. DNA test for the Agouti and Extension loci that controls distribution of Black and Red pigment throughout the coat. Sample 30 to 40  hair roots  or 5 mL - blood - K3 EDTA tube 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 day 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? Horses have only three base colours: Bay, Black or Chestnut These different colours are controlled by 2 loci, the Extension  (Red/Black) and Agouti. The Extension locus controls the production of black or red pigment throughout the coat. The allele for black color (E) is dominant over the red allele (e), so a horse only needs one copy of the black allele to appear black-based. But if the horse has two alleles (e/e) he will appear Chestnut. The Agouti locus can then modify black pigment by pushing it the horse's points, creating a Bay. The Agouti A allele is dominant, so a black pigmented horse only needs one copy (heterozygous) of the A allele to appear Bay. The Agouti (a) allelle is recessive, thus, a horse needs two copies (homozygous) of the recessive allele (a) at the Agouti locus to appear Black. Agouti has no effect on red pigment, but the red allele (e) is dominant over the (a) allele. This means a Chestnut horse (e/e) can carry one or two copies of the Agouti recessive (a) allele and will look no different from chestnut horses with  Agouti dominant alleles (e/e a/a, e/e A/a,  e/e A/A).   Results description Base Colour Extension Agouti Bay E/E or E/e A/A or A/a Black E/E or E/e a/a Red e/e A/A, A/a or a/a   References Rieder, S., Taourit, S., Mariat, D., Langlois, B., & Guérin, G. (2001). Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus). Mammalian genome : official journal of the International Mammalian Genome Society, 12(6), 450–455. https://doi.org/10.1007/s003350020017  Marklund, L., Moller, M. J., Sandberg, K., & Andersson, L. (1996). A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mammalian genome : official journal of the International Mammalian Genome Society, 7(12), 895–899. https://doi.org/10.1007/s003359900264

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 DNA test The cream dilution gene has varying effects on different base colours. To obtain the exact ‘type name’ of cream dilute of the horse it is recommended to run this test in conjunction with Extension and Agouti genes. Sample 30 to 40 - hair roots - envelope or 5 mL - blood - K3 EDTA tube Turnaround time 2 to 5  working days Why test? Testing is useful where genetic confirmation is required or to define cream dilute horses aside from other genes with similar effects (such as champagne dilution and grey). Running this test will confirm if a horse is cream dilute. As mentioned the cream dilution gene has varying effects on different base colours. To obtain the exact ‘type name’ of cream dilute of the horse (eg. Buckskin, Palomino, Cremello…) it is recommended to run this test in conjunction with red factor and agouti. Results description The DNA test verifies the presence of the Cream dilution gene and presents results as one of the following: N/ - Non-dilute. Basic colours are black, bay or chestnut, in the absence of other modifying genes. N/Cr – Dilute. Heterozygous, one copy of the Cream (Cr) allele. Chestnut is diluted to palomino; bay is diluted to buckskin and black is diluted to smoky black. These colours can be further modified by the actions of other genes. Cr/ - Double dilute, two copies of the Cream (Cr) allele. Chestnut is diluted to cremello; bay is diluted to perlino and black is diluted to smoky cream. Additional information The cream dilution gene affects both red and black pigment and is responsible for ‘diluting’ the carrying horse to lighter coat shades and colours. In many breeds this is often considered a highly desirable trait. Cream dilution is the gene responsible for palominos, buckskins, cremellos and many more. Horses which carry one copy of the cream gene are identified as single dilutes; they are heterozygous for the cream dilution gene. In the simplest case, a bay horse with a single copy of cream is known as a buckskin, a single dilute black horse is known as a smoky black and a single dilute chestnut or sorrel horse is known as a palomino. Single dilute horses have a 50% chance on passing the cream gene on to its offspring. Horses which carry two copies of the cream gene are referred to as double dilutes; they are homozygous for the cream dilution gene. A bay horse with two copies of cream is known as a perlino. A black horse with two copies of cream is known as a smoky cream and a chestnut or sorrel horse that carries two copies of cream is known as a cremello. Double dilute horses will always pass on a copy of the cream gene to its foals.      

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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 DNA test for Hereditary Equine Regional Dermal Asthenia (HERDA). This test verifies the presence of the recessive HERDA 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 DNA test helps breeders to identify horses that carrying the HERDA 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 HERDA gene and presents results as one of the following:     N/ - Negative for HERDA. Absence of the defective gene responsible for HERDA. N/HERDA - Carrier - Positive heterozygous for HERDA. Presence of one copy of the allele responsible for HERDA.  The horse is a carrier for HERDA and can pass on a copy of HERDA allele to their progeny when bred. HERDA/ - Positive Homozygous for HERDA. Presence of two copies of the allele responsible for HERDA.  The horse is affected by  HERDA disorder and can pass the HERDA allele to 100% of their progeny when bred. Additional information Hereditary equine regional dermal asthenia (HERDA) is a genetic skin disease predominantly found in the American Quarter Horse. Within the breed, the disease is prevalent in particular lines of cutting horses. HERDA is characterised by hyper-extensible skin, scarring, and severe lesions along the back of affected horses. Affected foals rarely show symptoms at birth. The condition typically occurs by the age of two, most notably when the horse is first being broke to saddle. There is no cure, and the majority of diagnosed horses are euthanised because they are unable to be ridden and are inappropriate for future breeding. HERDA has an autosomal recessive mode of inheritance and affects stallions and mares in equal proportions.

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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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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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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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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 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 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 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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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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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 DNA test for the Extension gene that controls the production of black or red pigment throughout the coat. 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 testing for the Extension gene can be used to identify those black horses for which neither pedigree nor breeding records is informative for identifying carriers of the recessive red factor. Since red is inherited as a recessive trait, it is relatively easy to start up a breeding program that will produce only red horses. It has been more difficult to initiate a black breeding program as black (Ee) horses can produce red foals.  Results description The DNA test for Extension gene verifies the base coat color and presents results as one of the following: E/E - Dominant Homozygous for Extension - Black, Bay or Brown - Only the black factor is expressed. The horse can only transmit the (E) allele E/E to it offspring. It cannot have foals with basic coat colour Chestnut or Sorrel foals regardless of the color of the mate. The Agouti gene will determine if the basic coat color will be black, bay or brown, unless modified by other color modifying genes. E/e - Heterozygous for Extension - Black, Bay or Brown - Both red and black factor are expressed. It can transmit either (E) or (e) allele to its offspring. The Agouti gene will determine if the basic coat color will be black, bay or brown, unless modified by other color modifying genes. e/e - Recessive homozygous for Extension - Chestnut or Sorrel - Only the red pigment is expressed. The basic coat color is chestnut or sorrel unless modified by other color modifying genes. Additional information Equine coat color is built on one of two possible base pigments: red or black. The Extension gene controls the production of this base pigment (red or black). All horses will have the genetics for black or red pigment, regardless of their physical appearance. There are a number of dilutions patterns and modifiers, which a horse can carry that affect the base pigment of a horse. The Extension gene (red factor) has two alternative states (alleles). The dominant allele (E) produces black pigment in the coat. The recessive allele (e) produces red pigment. Red horses (chestnuts, sorrels, palominos…) are homozygous, that is they have two alleles, for the recessive red allele (e/e). Black pigmented horses (black, bay, brown, buckskin…) have at least one (E) allele. They can be homozygous (E/E) or heterozygous (E/e). A horse that is homozygous (E/E) will not produce red offspring, regardless of the color of the mate.  

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DNA test The genetic test verifies the presence of the Silver coat dilution modifier. The Silver genetic variant is associated with Multiple Congenital Ocular Abnormalities (MCOA) in some breeds.   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 silver gene and presents results as one of the following: N/ – Negative for Silver - No evidence of the genetic variant for Silver. No risk to develop Multiple Congenital Ocular Abnormalities (MCOA) associated to Silver. Z/N - Heterozygous for Silver - The Black and Bay basic coat colour will be diluted by Silver. Black-based horses will be chocolate with flaxen mane and tail. Bay-based horses will have pigment on lower legs lightened and flaxen mane and tail. No effect on chestnut color. Moderate risk to develop MCOA. Z/ – Homozygous for Silver - Two copies of altered sequence detected. Black-based horses will be chocolate with flaxen mane and tail. Bay-based horses will have pigment on lower legs lightened and flaxen mane and tail. No effect on chestnut color, but will pass the variant on to 100% of offspring.  Higher risk to develop severe MCOA. Additional information The Silver dilution behaves as a coat colour dominant trait on bay and black base coat colours. While chestnut base colour is not affected by the Silver dilution and can pass the variant silently to the offspring.  In short, the Silver dilution variant (Z) will only affect coat colour phenotype of black pigmented horses (E/e or E/E) and has no effect on red pigmented horses (e/e).  In addition, the eye disorders associated to Silver genetic variant are incomplete autosomal dominant:  homozygous horses (with two copies of Z)  may be at higher risk of developing severe Multiple Congenital Ocular Abnormalities (MCOA), while heterozygous (with one copy of Z) may develop a milder form of MCOA.   The effects of the silver dilution on coat colour gene can vary widely. The agouti gene affects the coat colour by controlling the distribution of the black pigment whereas the Silver dilution variant dilutes areas of the black pigment. Dilution by the Silver variant on a horse with a uniform black base typically involves lightening of the mane and tail and a dilution of the body to a chocolate color, often dappled as well. A Bay horse carrying the Silver gene will usually have a lightened mane and tail, as well as lightened lower legs. It is important to know that although a red horse (e/e) will not be diluted by the silver variant, it can be a carrier of the genetic variant and thus potentially pass the gene on to its offspring. Silver dilution has been identified in a number of horse breeds including the Quarter horse, the Rocky Mountain horse, the Icelandic horse, Morgans, Shetland ponies and the Miniature horse. References: Brunberg, E., Andersson, L., Cothran, G., Sandberg, K., Mikko, S., Lindgren, G.: A missense mutation in PMEL17 is associated with the silver coat color in the horse. BMC Genetics 7:46, 2006. Andersson, L.S., Wilbe, M., Viluma, A., Cothran, G., Ekesten, B., Ewart, S., Lindgren, G.: Equine Multiple Congenital Ocular Anomalies and Silver Coat Colour Result from the Pleiotropic Effects of Mutant PMEL. PLoS One 8:e75639, 2013.

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DNA test The DNA test is designed to verify the presence of the pearl allele (Prl), a coat color dilution modifier discovered in horses of Iberian origin. This variant produces dilutions of the base color, introducing golden tones to the coat.   Sample requirements  20 to 30 hair roots, or 5 mL of blood in a K3 EDTA tube.   Turnaround time The results are available within 2 to 5 working days. Why test? Purpose of the Test Pearl is a rare variant that dilutes the base coat colors in a less pronounced manner than the cream variant (Cr). It can complement the effect of the Cream variant, leading to very diluted coats similar to Cream double dilutes when both are present in heterozygosity. Testing is crucial for breeding purposes, as heterozygous Pearl horses can produce diluted offspring when bred with another Pearl carrier or a Cream dilute horse. The impact of the Pearl dilution varies based on the horse's base color, affecting the phenotype differently across different base colors.    Interpretation of Results for the Pearl Locus  N/N - Negative for Pearl The horse is genetically negative for the pearl allele, meaning it does not have any copies of this genetic variant. Its phenotype reflects the natural, unaltered base coat color. This horse will not pass the pearl dilution trait to its offspring, ensuring the continuation of the base coat color in the lineage. N/Prl – Positive Heterozygous  The horse is positive for the Pearl allele in a heterozygous state, indicating it carries one copy of the pearl variant. This configuration subtly dilutes the base coat color, infusing it with golden tones, although in some instances, the dilution effect may not be visually apparent.  As a heterozygous carrier, there's a 50% probability that it will transmit this dilution trait to its offspring, potentially leading to varied coat colors among the progeny. Prl/Prl -  Positive Homozygous  The horse is positive for the pearl allele in a homozygous state, carrying two copies of this genetic variant. This genotype manifests in a more noticeable dilution of the coat color, even in the absence of other dilution genes. Being homozygous, the horse will invariably pass the pearl allele to all of its offspring, ensuring the trait's propagation and contributing to the diversity of coat colors in future generations.   Additional insights The interplay between the Cream and Pearl genes subtly yet significantly affects horse coat colors, particularly evident in horses heterozygous for both genes (N/Cr + N/Prl). These horses often resemble double cream dilutes but can be distinguished by slightly darker eye colors and a marginally darker coat. Unlike double cream dilutes, the combined dilution effect of heterozygous Cream and Pearl genes might not be as pronounced, requiring careful observation or genetic testing for accurate identification.Homozygous Pearl horses (Prl/Prl) exhibit a more noticeable dilution, displaying pronounced golden tones in their coats compared to their homozygous Cream counterparts (Cr/Cr), whose phenotype is lighter. Interestingly, the eye and skin colors in foals—typically blue and pinkish, respectively—tend to darken with age, while the coat lightens.The subtle dilution effects of a single Pearl allele (N/Prl) often go undetected without genetic analysis, as they minimally alter the horse's appearance. However, the presence of two Pearl alleles (Prl/Prl) significantly enhances the dilution, affecting not just the coat but also the eye color, with amber or green hues depending on the base coat color.Identified in Iberian breeds like the Purebred Lusitano (PSL) and Purebred Spanish Horse (PRE), and speculated in the Spanish Mustang, the Pearl gene's inclusion in genetic discussions highlights its broad impact across equine breeds. This genetic diversity, particularly when Pearl intersects with Cream, underscores the complexity of equine coat colors and the value of genetic testing for breeders. 

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DNA test The DNA test verifies the presence of the champagne mutation. Champagne  is a coat dilution modifier. Sample 30 to 40 - hair roots - envelope or 5 mL - blood - K3 EDTA tube Turnaround time 2 to 5  working days Why test? Equigerminal offers testing for the dominant champagne gene-mutation. DNA testing may be useful in cases whereby a horse has previously tested negative for cream or silver dilutions, but appears to have a lightened-coat. Testing is also used to determine Homozygosity of the champagne gene.  Results description The DNA test verifies the presence of the champagne mutation and presents results as one of the following: N/ – Non-champagne horse. N/Ch – Positive for dominant champagne gene, possessing one inherited copy. Coat will be diluted accordingly. Will pass champagne gene to approximately 50% of the offspring. Ch/ – Positive for dominant champagne gene, possessing two inherited copies. Coat will be diluted accordingly. Additional information Champagne dilution is caused by a dominant gene, meaning that a horse with a single copy of the Champagne gene will have Champagne characteristics. The Champagne dilution gene lightens a horse’s coat color by diluting the pigment. The specific color produced will depend on the horse’s base color: bay coats to a golden brown, black coats can lighten to a dark brown, and chestnut coats to an apricot or gold. A horse can carry more than one dilution gene which can further affect coat color. Unlike cream dilution, there are no visual differences between a horse with one copy or two copies of Champagne. Although similar to the cream, pearl and dun dilutions, the Champagne gene has certain characteristics that distinguish it from other dilutions. Common characteristics of a Champagne horse include pinkish freckled or mottled skin, a shiny coat that is often slightly darker in the winter, and a hazel eye color. Champagne horses are typically born with a blue eye color that evolves to a hazel or an amber colour and pink skin that becomes darker and more freckled over time, especially around the eyes and muzzle. A homozygous Champagne horse will always pass one copy of the Champagne gene to its foal. Heterozygous horses have a 50% chance of passing the gene on to its foals.

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