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HIGH QUALITY DNA
TESTING YOU CAN TRUST
OUR PANELS
The tests in our DNA health testing panels are selected based on the scientific evidence available for disorders in the breed. Our scientists stay up to date with the latest developments and discoveries in the field to ensure that our testing panels are as up-to-date as possible.
DID YOU KNOW?
Our ISO-accredited testing services are relied upon by UK police forces for assessing the suitability of canine recruits for police duties.
TESTIMONIALS
approx. 2 weeks
Typical turnaround
6
Conditions screened
Simple cheek swab
At-home sampling
UK laboratory
Tested in-house
Degenerative Myelopathy (Bernese Mountain Dog variant)DM-BMD
Degenerative Myelopathy (DM) is a progressive disease of the spinal cord that usually appears in older dogs. It gradually weakens the hind limbs, leading to loss of coordination and eventually difficulty walking. It is not painful, but it is progressive. Knowing a dog's status supports breeding decisions and early awareness.
An autosomal recessive condition with variable expression between breeds caused by a mutation in the SOD1 gene.
Please note that although this variant is specific to BMD only, the all breeds variant of DM may also affect BMD.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies of the variant; not expected to develop this inherited form.
Carrier (N/DM): one copy. Very unlikely to develop DM, but can pass the variant on.
At risk (DM/DM): two copies. At risk of developing DM, though not all at-risk dogs do.
Degenerative MyelopathyDM
Degenerative Myelopathy (DM) is a progressive disease of the spinal cord that usually appears in older dogs. It gradually weakens the hind limbs, leading to loss of coordination and eventually difficulty walking. It is not painful, but it is progressive. Knowing a dog's status supports breeding decisions and early awareness.
An autosomal recessive condition with variable expression between breeds caused by a mutation in the SOD1 gene.
Signs to look for
Usually from around 8 years old: wobbliness or dragging of the hind paws, loss of coordination in the back legs, worn nails, and gradually progressing hind-limb weakness.
How it's inherited
Recessive with incomplete penetrance — a dog needs two copies to be at risk, but not every at-risk dog develops signs.
What your result means
Clear (N/N): no copies of the variant; not expected to develop this inherited form.
Carrier (N/DM): one copy. Very unlikely to develop DM, but can pass the variant on.
At risk (DM/DM): two copies. At risk of developing DM, though not all at-risk dogs do.
OsteochondrodysplasiaOCD
Osteochondrodysplasia (OCD) is a musculoskeletal disorder which begins with stunted growth at three weeks old. It causes splayed legs, club feet, enlarged joints, flattened ribcage, and underbite. Dogs may live a normal life span with care, but a tendency for arthritis and breathing difficulty.
An autosomal recessive condition caused by a mutation in the SLC13A1 gene.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop OCD, nor pass it on.
Carrier (N/OCD): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (OCD/OCD): two copies; expected to develop OCD. Discuss with your vet.
Neonatal Encephalopathy with Seizures NEWS
Neonatal Encephalopathy with Seizures (NEWS) is an inherited neurological disorder found in Standard Poodles, caused by a variant in the ATF2 gene. Puppies with the condition typically fail to develop normally and may show weakness, tremors, poor coordination and severe seizures from around three weeks of age, with most affected puppies dying or being euthanised before seven weeks of age. As the carrier frequency is relatively high within the breed, genetic testing is important for identifying carriers and helping breeders make informed breeding decisions to avoid producing affected puppies while maintaining genetic diversity.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop NEWS, nor pass it on.
Carrier (N/NEWS): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (NEWS/NEWS): two copies; expected to develop NEWS. Discuss with your vet.
Progressive Retinal Atrophy -PRCDPRA-PRCD
Progressive Retinal Atrophy, progressive rod-cone degeneration type (PRA-PRCD), is an inherited eye condition in which the light-sensing cells of the retina gradually break down. It leads to night blindness first, then progressive loss of vision, often ending in blindness. Onset and speed vary. Testing supports breeding choices and early awareness.
Signs to look for
Early night blindness or reluctance in the dark, bumping into things in low light, dilated pupils or a reflective 'shine' to the eyes, progressing to daytime vision loss.
How it's inherited
Recessive — a dog needs two copies of the variant to be affected.
What your result means
Clear (N/N): no copies; not expected to develop PRA-PRCD, nor pass it on.
Carrier (N/PRA): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (PRA/PRA): two copies; expected to develop PRA-PRCD. Discuss with your vet.
Von Willebrand Disease Type 1VWD1
Von Willebrand Disease (VWD) is a bleeding disorder which affects blood clotting. Affected dogs may have nosebleeds and bruise easily, as well as bleed heavily after injury or surgery. Most dogs will have a normal life expectancy but this condition should be noted to veterinarians in the case of surgery.
An autosomal recessive condition caused by a mutation in the VWF gene.
Please note: This test is for Von Willebrand Disease Type 1 only. Please check which type of VWD affects your breed before ordering this as a single test. If this test is included in a breed health package, it is relevant to that breed.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop vWD, nor pass it on.
Carrier (N/vWD): one copy. May develop the disease.
Affected (vWD/vWD): two copies; expected to develop vWD. Discuss with your vet.
Degenerative Myelopathy (Bernese Mountain Dog variant)DM-BMD
- Gene
- SOD1
- Variant
- c.52A>T; p.Thr18Ser
- Inheritance
- autosomal recessive
- OMIA
- 000263 9615
Molecular mechanism
Degenerative Myelopathy (DM) is a progressive neurodegenerative disease of the spinal cord that typically affects dogs older than 8 years of age. The condition is characterised by progressive muscle atrophy and weakness of the limbs, advancing to tetraparesis (Awano et al., 2009) and eventually respiratory muscle failure (Nardone et al., 2016). DM is inherited as an autosomal recessive condition with variable expression between breeds. In Bernese Mountain Dogs a second disease-associated allele, c.52A\u0026gt;T; p.Thr18Ser, was identified by Wininger et al., (2011) and was concluded to be limited to this breed by Zeng et al., (2014).
Please note that although this variant is specific to BMD only, the all breeds variant of DM may also affect BMD.
References
Awano, T., Johnson, GS., Wade, CM., Katz, ML., Johnson, GC., Taylor, JF., Perloski, M., Biagi, T., Baranowska, I., Long, S., March, PA., Olby, NJ., Shelton, GD., Khan, S., O\u0026#39;Brien, DP., Lindblad-Toh, K., Coates, JR. : Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 106:2794-9, 2009. Pubmed reference: 19188595. DOI: 10.1073/pnas.0812297106.
Nardone, R., Höller, Y., Taylor, A.C., Lochner, P., Tezzon, F., Golaszewski, S., Brigo, F., Trinka, E. : Canine degenerative myelopathy: a model of human amyotrophic lateral sclerosis. Zoology (Jena) 119:64-73, 2016. Pubmed reference: 26432396. DOI: 10.1016/j.zool.2015.09.003.
Wininger, F.A., Zeng, R., Johnson, G.S., Katz, M.L., Johnson, G.C., Bush, W.W., Jarboe, J.M., Coates, J.R. :Degenerative myelopathy in a Bernese Mountain Dog with a novel SOD1 missense mutation.J Vet Intern Med25:1166-70, 2011. Pubmed reference:21848967. DOI:10.1111/j.1939-1676.2011.0760.x.
Zeng, R., Coates, J.R., Johnson, G.C., Hansen, L., Awano, T., Kolicheski, A., Ivansson, E., Perloski, M., Lindblad-Toh, K., O\u0026#39;Brien, D.P., Guo, J., Katz, M.L., Johnson, G.S. : Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy. J Vet Intern Med 28:515-21, 2014. Pubmed reference: 24524809. DOI: 10.1111/jvim.12317.
Degenerative MyelopathyDM
- Gene
- SOD1
- Variant
- c.118G>A (p.Glu40Lys)
- Inheritance
- autosomal recessive
- OMIA
- OMIA 000263 9615
- Reported frequency
- One of the most widespread canine disease variants, reported across very many breeds with varying penetrance.
Molecular mechanism
Degenerative Myelopathy (DM) is a progressive neurodegenerative disease of the spinal cord that typically affects dogs older than 8 years of age. The condition is characterised by progressive muscle atrophy and weakness of the limbs, advancing to tetraparesis (Awano et al., 2009) and eventually respiratory muscle failure (Nardone et al., 2016). DM is inherited as an autosomal recessive condition with variable expression between breeds. Missense mutation (c.118G\u0026gt;A; p.E40K) in exon 2 of the SOD1 gene on canine chromosome 31 (CFA31) was identified as the primary genetic risk factor by Awano et al., (2009). However, some dogs homozygous for the variant remain clinically unaffected, demonstrating incomplete penetrance. The SOD1.118G\u0026gt;A risk allele has been identified in 222 dog breeds. Burnese Mountain Dogs are also susceptible to this version of DM in addition to their breed-specific variant of DM, see DM- BMD variant for further information.
References
Awano, T., Johnson, GS., Wade, CM., Katz, ML., Johnson, GC., Taylor, JF., Perloski, M., Biagi, T., Baranowska, I., Long, S., March, PA., Olby, NJ., Shelton, GD., Khan, S., O\u0026#39;Brien, DP., Lindblad-Toh, K., Coates, JR. : Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 106:2794-9, 2009. Pubmed reference: 19188595. DOI: 10.1073/pnas.0812297106.
Nardone, R., Höller, Y., Taylor, A.C., Lochner, P., Tezzon, F., Golaszewski, S., Brigo, F., Trinka, E. : Canine degenerative myelopathy: a model of human amyotrophic lateral sclerosis. Zoology (Jena) 119:64-73, 2016. Pubmed reference: 26432396. DOI: 10.1016/j.zool.2015.09.003.
Zeng, R., Coates, J.R., Johnson, G.C., Hansen, L., Awano, T., Kolicheski, A., Ivansson, E., Perloski, M., Lindblad-Toh, K., O\u0026#39;Brien, D.P., Guo, J., Katz, M.L., Johnson, G.S. : Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy. J Vet Intern Med 28:515-21, 2014. Pubmed reference: 24524809. DOI: 10.1111/jvim.12317.
OsteochondrodysplasiaOCD
- Gene
- SLC13A1
- Variant
- g.60628774_60758561del
- Inheritance
- autosomal recessive
- OMIA
- OMIA001400 9615
Molecular mechanism
Osteochondrodysplasia, also known as pseudoachondroplastic dysplasia, is an inherited skeletal disorder affecting Miniature Poodles. Affected puppies develop skeletal abnormalities from an early age, including shortened and bowed limbs, enlarged joints, abnormal paw conformation, an undershot jaw, and a flattened rib cage. As the disease progresses, affected dogs commonly develop restricted mobility and secondary arthritis due to abnormal bone and cartilage development (Neff et al., 2012). The condition follows an autosomal recessive pattern of inheritance and is caused by a 130 kb deletion affecting the SLC13A1 gene on canine chromosome 14 (CFA14). The deletion, which removes all but the first exon of SLC13A1, was first identified by Neff et al., (2012) following a genome-wide association study and subsequent FISH analysis.
Genetic testing can identify clear, carrier, and affected dogs, enabling informed breeding decisions to prevent affected puppies while maintaining genetic diversity within the breed. Neff et al., (2012) reported an allele frequency of approximately 5% in Miniature Poodles in the United States, corresponding to an estimated carrier frequency of around 10%.
References
Neff, M.W., Beck, J.S., Koeman, J.M., Boguslawski, E., Kefene, L., Borgman, A., Ruhe, A.L. : Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. PLoS One 7:e51917, 2012. Pubmed reference: 23300579. DOI: 10.1371/journal.pone.0051917.
Neonatal Encephalopathy with Seizures NEWS
- Gene
- ATF2
- Variant
- c.152T>G (p.Met51Arg)
- Inheritance
- autosomal recessive
- OMIA
- OMIA001471 9615
Molecular mechanism
Neonatal Encephalopathy with Seizures (NEWS) is an inherited neurological disorder affecting Standard Poodles. It follows an autosomal recessive pattern of inheritance and is caused by a missense variant in the ATF2 gene on canine chromosome 36 (CFA36). The causative variant, c.152T\u0026gt;G (p.Met51Arg), was first identified by Chen et al., (2008) following linkage analysis that mapped the disorder to a 2.87 Mb region containing ATF2.
Affected puppies are typically smaller than their littermates at birth and fail to develop normally. Clinical signs begin at around 3 weeks of age and include weakness, tremors, ataxia, poor coordination, increased muscle tone, and reduced responsiveness. As the disease progresses, affected puppies develop severe seizures that become resistant to treatment, with most dying or being euthanised before 7 weeks of age (Chen et al., 2008; Yu et al., 2020).
Genetic testing can identify clear, carrier, and affected dogs, allowing breeders to avoid producing affected puppies while maintaining genetic diversity. In the original study by Chen et al., (2008), approximately 36% of Standard Poodles tested were carriers and 2.7% were genetically affected, highlighting the importance of testing within the breed.
References
Chen, X., Johnson, G.S., Schnabel, R.D., Taylor, J.F., Johnson, G.C., Parker, H.G., Patterson, E.E., Katz, M.L., Awano, T., Khan, S., O\u0026#39;Brien, D.P. : A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics 9:41-9, 2008. Pubmed reference: 18074159. DOI: 10.1007/s10048-007-0112-2.
Yu, Y., Hasegawa, D., Chambers, J.K., Kojima, K., Asada, R., Johnson, G.S., Uchida, K. : Magnetic resonance imaging and histopathologic findings from a standard poodle with neonatal encephalopathy with seizures. Front Vet Sci 7:578936, 2020. Pubmed reference: 33244473. DOI: 10.3389/fvets.2020.578936.
Progressive Retinal Atrophy -PRCDPRA-PRCD
- Gene
- PRCD
- Variant
- c.5G>A (p.Cys2Tyr)
- Inheritance
- autosomal recessive
- OMIA
- OMIA 001298 9615
- Reported frequency
- A single PRCD variant is shared across a large number of breeds, making it one of the most commonly tested PRA forms.
Molecular mechanism
Progressive retinal atrophy (PRA) encompasses a genetically heterogeneous group of inherited retinal degenerative disorders characterised by the progressive loss of photoreceptor function, ultimately resulting in irreversible blindness. Although the clinical presentation is broadly similar across affected breeds, with initial degeneration of rod photoreceptors causing night blindness followed by cone degeneration and progressive loss of daylight vision, numerous genetically distinct forms of PRA have been identified (Miyadera et al., 2012; Mowat et al., 2024). Advances in canine molecular genetics have demonstrated that variants in multiple genes involved in photoreceptor development, maintenance and function can produce clinically similar retinal phenotypes. Consequently, breed-specific genetic testing is required, as different forms of PRA are associated with different causative variants.
PRA-PRCD is an autosomal recessive form of progressive retinal atrophy caused by a missense variant in the PRCD gene. PRCD Zangerl et al., (2006) identified a c.5G\u0026gt;A (p.Cys2Tyr) variant that has been reported across numerous dog breeds. Affected dogs are born with normal vision but gradually develop night blindness, progressing to complete blindness as both rod and cone photoreceptors degenerate. Widespread genetic testing has substantially reduced the frequency of this variant in several breeds, although carriers and affected dogs continue to be identified (Zangerl et al., 2006; Lewis \u0026amp; Mellersh, 2019; Clark et al., 2023).
The expanding number of recognised PRA-associated variants highlights the marked genetic heterogeneity underlying inherited retinal degeneration in dogs. While many of these variants are breed-specific, others are shared across multiple breeds through historical founder events. Genetic testing enables accurate identification of affected and carrier dogs, supporting informed breeding decisions aimed at reducing disease prevalence while preserving genetic diversity. As additional causative variants continue to be identified, molecular testing will remain an important tool for improving the diagnosis, management and long-term control of progressive retinal atrophy in canine populations (Lewis \u0026amp; Mellersh, 2019; Mowat et al., 2024).
References
References
Aguirre, G.D., Lohi, H., Kaukonen, M., Murgiano, L. : Formal commentary. PLoS Genet 16:e1009059, 2020. Pubmed reference: 33151924. DOI: 10.1371/journal.pgen.1009059.
Clark, J.A., Anderson, H., Donner, J., Pearce-Kelling, S., Ekenstedt, K.J. : Global frequency analyses of canine progressive rod-cone degeneration-progressive retinal atrophy and Collie eye anomaly using commercial genetic testing data. Genes (Basel) 14:2093, 2023. Pubmed reference: 38003037. DOI: 10.3390/genes14112093.
Downs, L.M., Wallin-Håkansson, B., Boursnell, M., Marklund, S., Hedhammar, Å., Truvé, K., Hübinette, L., Lindblad-Toh, K., Bergström, T., Mellersh, C.S. : A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One 6:e21452, 2011. Pubmed reference: 21738669. DOI: 10.1371/journal.pone.0021452.
Downs, L.M., Bell, J.S., Freeman, J., Hartley, C., Hayward, L.J., Mellersh, C.S. : Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet 44:169-77, 2013. Pubmed reference: 22686255. DOI: 10.1111/j.1365-2052.2012.02379.x.
Downs, L.M., Mellersh, C.S. : An intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers. PLoS One 9:e93990, 2014. Pubmed reference: 24705771. DOI: 10.1371/journal.pone.0093990.
Downs, L.M., Wallin-Håkansson, B., Bergström, T., Mellersh, C.S. : A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol 1:4, 2014. Pubmed reference: 26401321. DOI: 10.1186/2052-6687-1-4.
Goldstein, O., Mezey, JG., Boyko, AR., Gao, C., Wang, W., Bustamante, CD., Anguish, LJ., Jordan, JA., Pearce-Kelling, SE., Aguirre, GD., Acland, GM. : An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. Mol Vis 16:1549-69, 2010. Pubmed reference: 20806078.
Karlskov-Mortensen, P., Proschowsky, H.F., Gao, F., Fredholm, M. : Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog. Anim Genet 49:237-241, 2018. Pubmed reference: 29624701. DOI: 10.1111/age.12659.
Kaukonen, M., Quintero, I.B., Mukarram, A.K., Hytönen, M.K., Holopainen, S., Wickström, K., Kyöstilä, K., Arumilli, M., Jalomäki, S., Daub, C.O., Kere, J., Lohi, H. : A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PLoS Genet 16:e1008659, 2020. Pubmed reference: 32150541. DOI: 10.1371/journal.pgen.1008659.
Kropatsch, R., Petrasch-Parwez, E., Seelow, D., Schlichting, A., Gerding, WM., Akkad, DA., Epplen, JT., Dekomien, G. : Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene. Mol Cell Probes 24:357-63, 2010. Pubmed reference: 20691256. DOI: 10.1016/j.mcp.2010.07.007.
Lewis, T.W., Mellersh, C.S. : Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096. DOI: 10.1371/journal.pone.0209864.
Mellersh, CS., Boursnell, ME., Pettitt, L., Ryder, EJ., Holmes, NG., Grafham, D., Forman, OP., Sampson, J., Barnett, KC., Blanton, S., Binns, MM., Vaudin, M. : Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics 88:293-301, 2006. Pubmed reference: 16806805. DOI: 10.1016/j.ygeno.2006.05.004.
Mowat, F.M., Iwabe, S., Aguirre, G.D., Petersen-Jones, S.M. : Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol 28:663-667, 2024. Pubmed reference: 38334230. DOI: 10.1111/vop.13185.
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
Murgiano, L., Becker, D., Torjman, D., Niggel, J.K., Milano, A., Cullen, C., Feng, R., Wang, F., Jagannathan, V., Pearce-Kelling, S., Katz, M.L., Leeb, T., Aguirre, G.D. : Complex structural PPT1 variant associated with non-syndromic canine retinal degeneration. G3 (Bethesda) 9:425-437, 2019. Pubmed reference: 30541930. DOI: 10.1534/g3.118.200859.
Petersen-Jones, S.M., Entz, D.D., Sargan, D.R. : CGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog Investigative Ophthalmology \u0026amp; Visual Science 40:1637-1644, 1999. Pubmed reference: 10393029.
Suber, M.L., Pittler, S.J., Qin, N., Wright, G.C., Holcombe, V., Lee, R.H., Craft, C.M., Lolley, R.N., Baehr, W., Hurwitz, R.L. : Irish Setter Dogs Affected with Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase beta- Subunit Gene Proceedings of the National Academy of Sciences of the United States of America 90:3968-3972, 1993. Pubmed reference: 8387203.
Svensson, M., Olsén, L., Winkler, P.A., Petersen-Jones, S.M., Bergström, T., Garncarz, Y., Narfström, K. : Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study. Vet Ophthalmol 19:195-205, 2016. Pubmed reference: 26009980. DOI: 10.1111/vop.12284.
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21, 2015. Pubmed reference: 26202106. DOI: 10.1111/age.12323.
Winkler, P.A., Ekenstedt, K.J., Occelli, L.M., Frattaroli, A.V., Bartoe, J.T., Venta, P.J., Petersen-Jones, S.M. : A large animal model for CNGB1 autosomal recessive retinitis pigmentosa. PLoS One 8:e72229, 2013. Pubmed reference: 23977260. DOI: 10.1371/journal.pone.0072229.
Zangerl, B., Goldstein, O., Philp, AR., Lindauer, SJ., Pearce-Kelling, SE., Mullins, RF., Graphodatsky, AS., Ripoll, D., Felix, JS., Stone, EM., Acland, GM., Aguirre, GD. : Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006. Pubmed reference: 16938425. DOI: 10.1016/j.ygeno.2006.07.007.
Von Willebrand Disease Type 1VWD1
- Gene
- VWF
- Variant
- VWF c.7437G>A
- Inheritance
- autosomal recessive
- OMIA
- OMIA001339 9615
Molecular mechanism
Von Willebrand Disease (vWD) is an inherited bleeding disorder caused by deficiency or dysfunction of von Willebrand factor (vWF), a plasma glycoprotein essential for normal platelet adhesion and blood clotting (Boudreaux, 2012). Affected dogs may experience prolonged bleeding following injury or surgery, spontaneous bleeding from the nose or gums, bruising, or blood in the urine (Thomas, 1996). Three recognised forms of the disease exist, which differ in severity: Type I is characterised by reduced concentrations of normal vWF and typically causes mild to moderate bleeding, Type II results from qualitative defects in the vWF protein and is associated with moderate to severe bleeding, while Type III is characterised by an almost complete absence of vWF and is the most severe form of the disease.
The genetics and inheritance of von Willebrand Disease vary according to the disease type and breed. Type I is associated with the VWF c.7437G\u0026gt;A splice-site variant and shows autosomal dominant inheritance with incomplete penetrance in some breeds, including Doberman Pinschers and Kromfohrländers, while autosomal recessive inheritance has been proposed in others (Gentilini and Turba, 2013; Segert et al., 2019). As a result, the Type I genetic test identifies dogs carrying the risk variant but should be interpreted alongside clinical findings and additional haemostatic testing where appropriate (Segert et al., 2019).
Please note: This test is for Von Willebrand Disease Type 1 only. Please check which type of VWD affects your breed before ordering this as a single test. If this test is included in a breed health package, it is relevant to that breed.
References
Armas-Jimenez, A.C., Randolph, A., Clark, L.A., Evans, J.M., Brooks, M.B., Goggs, R. : A VWF missense variant in Havanese dogs with type 3 von Willebrand disease. Anim Genet 56:e70021, 2025. Pubmed reference: 40504041. DOI: 10.1111/age.70021.
Boudreaux, M.K. : Inherited platelet disorders. J Vet Emerg Crit Care (San Antonio) 22:30-41, 2012. Pubmed reference: 22316339. DOI: 10.1111/j.1476-4431.2011.00702.x.
Gentilini, F., Turba, M.E. : Two novel real-time PCR methods for genotyping the von Willebrand disease type I mutation in Doberman Pinscher dogs. Vet J 197:457-60, 2013. Pubmed reference: 23911791. DOI: 10.1016/j.tvjl.2013.02.023.
Kramer, JW., Venta, PJ., Klein, SR., Cao, Y., Schall, WD., Yuzbasiyan-Gurkan, V. : A von Willebrand\u0026#39;s factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von Willebrand\u0026#39;s disease in a line of german shorthaired pointer dogs. Vet Pathol 41:221-8, 2004. Pubmed reference: 15133170. DOI: 10.1354/vp.41-3-221.
Rieger, M., Schwarz, H.P., Turecek, P.L., Dorner, F., Vanmourik, J.A., Mannhalter, C. : Identification of mutations in the canine von Willebrand factor gene associated with type III von-Willebrand-disease Thrombosis and Haemostasis 80:332-337, 1998. Pubmed reference: 9716162.
Segert, J.H., Seidel, J.M., Wurzer, W.J., Geretschlaeger, A.M. : vWDI is inherited in an autosomal dominant manner with incomplete penetrance, in the Kromfohrländer breed. Canine Genet Epidemiol 6:3, 2019. Pubmed reference: 31131110. DOI: 10.1186/s40575-019-0073-4.
Thomas, J.S. :von Willebrand\u0026#39;s disease in the dog and cat. Vet Clin North Am Small Anim Pract 26:1089-110, 1996. Pubmed reference: 8863392. DOI: 10.1016/s0195-5616(96)50057-4.
Venta, P.J., Li, J.P., Yuzbasiyan-Gurkan, V., Brewer, G.J., Schall, W.D. : Mutation causing von Willebrand\u0026#39;s disease in Scottish terriers Journal of Veterinary Internal Medicine 14:10-19, 2000. Pubmed reference: 10668811.
Vos-Loohuis, M., van Oost, B.A., Dangel, C., Langbein-Detsch, I., Leegwater, P.A. : A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers. Anim Genet 48:493-496, 2017. Pubmed reference: 28696025. DOI: 10.1111/age.12544.
