Name: Cockapoo DNA Health Panel
Brand: The Pet Genetics Lab
Price: 111.75 GBP
Availability: InStock

Cockapoo DNA Health Panel

Turnaround: approx. 2 weeks

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Tests included in the panel:

Acral Mutilation Syndrome (AMS) DNA TestAMSGDNF

Acral Mutilation Syndrome (AMS) can result in an insensitivity to pain and self-mutilation of the limb extremities. This can present as extreme licking of the paws and biting of the digits and claws developing from a young age (3-12 months). It is possible for a genetically at-risk dog to exhibit none of the symptoms of this syndrome.

Acral Mutilation Syndrome is an autosomal recessive condition caused by a mutation in a lincRNA upstream of the GDNF gene.
Inheritance: autosomal recessive
View this test on its own
Degenerative Myelopathy (DM) DNA TestDMSOD1

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.
Inheritance: autosomal recessive
View this test on its own
Exercise-Induced Collapse (EIC) DNA TestEICDNM1

Exercise Induced Collapse (EIC) is a neuromuscular disorder. After strenuous activity affected dogs will display hindlimb weakness and incoordination with usually a return to normal after around 30 minutes.

An autosomal recessive condition caused by a mutation in the DNM1 gene.
Inheritance: autosomal recessive
View this test on its own
Familial Nephropathy - Cocker Type (FN) DNA TestFNCOL4A4

Familial Nephropathy – Cocker Type, also known as Alport syndrome, is an inherited kidney disorder affecting English Cocker Spaniels, caused by a variant in the COL4A4 gene. The condition affects the structure of the kidneys and can lead to progressive loss of kidney function, and may also cause abnormalities affecting the eyes and ears. It is inherited as an autosomal recessive condition caused by a mutation on the COL4A4 gene.
A different COL4A4 variant causes Familial Nephropathy in English Springer Spaniels, so this test is specific to the Cocker Type.
Inheritance: autosomal recessive
View this test on its own
Neonatal Encephalopathy with Seizures (NEWS) DNA TestNEWSATF2

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.
Inheritance: autosomal recessive
View this test on its own
Osteochondrodysplasia (OCD) DNA TestOCDSLC13A1

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.
Inheritance: autosomal recessive
View this test on its own
Progressive Retinal Atrophy (PRA-PRCD) DNA TestPRA-PRCDPRCD

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.
Inheritance: autosomal recessive
View this test on its own
Von Willebrand Disease Type 1 (VWD1) DNA TestVWD1VWF

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.
Inheritance: autosomal recessive
View this test on its own

The Cockapoo DNA Health Panel screens for inherited disorders relevant to the breed, combining them into a single test at one price. One cheek swab covers all tests.

approx. 2 weeks Typical turnaround

8 Conditions screened

Simple cheek swab At-home sampling

UK laboratory Tested in-house

Acral Mutilation SyndromeAMS

Acral Mutilation Syndrome (AMS) can result in an insensitivity to pain and self-mutilation of the limb extremities. This can present as extreme licking of the paws and biting of the digits and claws developing from a young age (3-12 months). It is possible for a genetically at-risk dog to exhibit none of the symptoms of this syndrome.

Acral Mutilation Syndrome is an autosomal recessive condition caused by a mutation in a lincRNA upstream of the GDNF gene.

How it's inherited

Recessive

What your result means

Clear (N/N): your dog has no copies of the AMS variant and will not develop the condition, nor pass it on.

Carrier (N/AMS): your dog has one copy. It will not develop AMS, but if bred to another carrier, on average 25% of puppies would be affected. Breeding a carrier to a clear dog produces no affected puppies.

Affected (AMS/AMS): your dog has two copies and is expected to develop the condition. Discuss management with your vet.

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.

Exercise-Induced CollapseEIC

Exercise Induced Collapse (EIC) is a neuromuscular disorder. After strenuous activity affected dogs will display hindlimb weakness and incoordination with usually a return to normal after around 30 minutes.

An autosomal recessive condition caused by a mutation in the DNM1 gene.

How it's inherited

Recessive

What your result means

Clear (N/N): no copies; not expected to develop EIC, nor pass it on.

Carrier (N/EIC): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.

Affected (EIC/EIC): two copies; expected to develop EIC. Discuss with your vet.

Familial Nephropathy - Cocker TypeFN

Familial Nephropathy – Cocker Type, also known as Alport syndrome, is an inherited kidney disorder affecting English Cocker Spaniels, caused by a variant in the COL4A4 gene. The condition affects the structure of the kidneys and can lead to progressive loss of kidney function, and may also cause abnormalities affecting the eyes and ears. It is inherited as an autosomal recessive condition caused by a mutation on the COL4A4 gene.
A different COL4A4 variant causes Familial Nephropathy in English Springer Spaniels, so this test is specific to the Cocker Type.

How it's inherited

Recessive

What your result means

Clear (N/N): no copies; not expected to develop FN, nor pass it on.

Carrier (N/FN): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.

Affected (FN/FN): two copies; expected to develop FN. 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.

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.

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.

Acral Mutilation SyndromeAMS

Gene: GDNF
Variant: chr4.g.70,875,561C>T
Inheritance: autosomal recessive
OMIA: OMIA001514 9615

Molecular mechanism

Acral Mutilation Syndrome (AMS) is a neurological condition that causes acral analgesia, typically presents at a young age. Proprioception, motor abilities, and spinal reflexes are unaffected, but intermittent prescence of intense licking, biting, and self-mutilation of the feet can occur (Plassais et al., 2016). The condition is inherited as an autosomal recessive condition however not every homozygous carrier of the mutation, an at risk dog, shows clinical signs of the disease. Plassais et al., (2016) first sequenced and identified the gene variant, chr4.g.70,875,561C\u0026gt;T, in 300 affected dogs and confirmed it was not present on the 900 unaffected dogs from 130 breeds.

Frequency has not yet been studied although in 250 clinically affected dogs across four sporting breeds they were distinctly genomically different from 900 unaffected dogs across 130 breeds (Correard et al., 2017).

References

Correard, S., Plassais, J., Lagoutte, L., Paradis, M., Guagère, E., Quignon, P., Derrien, T., André, C. : A spontaneous dog model for a human sensory neuropathy: identification of a mutation in the upstream region of a neurotrophic factor. Bull Acad Vét Fr 169:190-194, 2017. DOI: 10.4267/2042/61953.

Plassais , J., Lagoutte, L., Correard, S., Paradis, M., Guaguère, E., Hédan, B., Pommier, A., Botherel, N., Cadiergues, M.-C., Pilorge, P., Silversides, D., Bizot, M., Samuels, M., Arnan, C., Johnson, R., Hitte, C., Salbert, G., Méreau, A., Quignon, P., Derrien, T., André, C. : A point mutation in a lincRNA upstream of GDNF is associated to a canine insensitivity to pain: A spontaneous model for human sensory neuropathies. PLoS Genetics 12:e1006482, 2016. Pubmed reference: 28033318. DOI: 10.1371/journal.pgen.1006482.

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.

Exercise-Induced CollapseEIC

Gene: DNM1
Variant: c.767G>T; p.Arg256Leu
Inheritance: autosomal recessive
OMIA: OMIA001466 9615

Molecular mechanism

Exercise-Induced Collapse (EIC) is characterised by transient episodes of muscle weakness and collapse triggered by strenuous exercise in otherwise healthy young dogs. Clinical signs typically develop within 2 minutes of completing 5–15 minutes of intense exercise and include hindlimb weakness, incoordination and an unsteady gait, which may progress to collapse, extensor rigidity, loss of consciousness and, in rare cases, death. Most dogs recover completely within approximately 30 minutes (Taylor et al., 2008; Patterson et al., 2008).
In retriever breeds, EIC is inherited as an autosomal recessive condition. Patterson et al., (2008) identified a missense mutation (c.767G\u0026gt;T; p.Arg256Leu) in exon 6 of the DNM1 gene on canine chromosome 9 (CFA9) as the causative variant. The variant has been reported in Labrador Retrievers, Chesapeake Bay Retrievers and Curly Coated Retrievers, allowing genetic testing to identify affected and carrier dogs. In a Midwestern US population of Labrador Retrievers, the variant was reported at a relatively high frequency, with 37% of dogs identified as carriers and 3% as homozygous affected, highlighting the importance of genetic testing to inform breeding decisions (Patterson et al., 2008). Although Border Collies can exhibit similar clinical signs, no causative variant has yet been identified for this breed; therefore, this genetic test is not applicable to Border Collies (Norton et al., 2021).

References

Norton, E.M., Minor, K.M., Taylor, S.M., McCue, M.E., Mickelson, J.R. : Heritability and genomic architecture of episodic exercise-induced collapse in Border Collies. Genes (Basel) 12:1927, 2021. Pubmed reference: 34946876. DOI: 10.3390/genes12121927.

Patterson, EE., Minor, KM., Tchernatynskaia, AV., Taylor, SM., Shelton, GD., Ekenstedt, KJ., Mickelson, JR. : A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nat Genet 40:1235-9, 2008. Pubmed reference: 18806795. DOI: 10.1038/ng.224.

Taylor, SM., Shmon, CL., Shelton, GD., Patterson, EN., Minor, K., Mickelson, JR. : Exercise-induced collapse of Labrador retrievers: survey results and preliminary investigation of heritability. J Am Anim Hosp Assoc 44:295-301, 2008. Pubmed reference: 18981194.

Familial Nephropathy - Cocker TypeFN

Gene: COL4A4
Variant: COL4A4_c.115A>T
Inheritance: autosomal recessive
OMIA: OMIA002618 9615

Molecular mechanism

Familial Nephropathy - Cocker Type, also known as Alport syndrome, is an inherited renal disorder affecting English Cocker Spaniels and also English Springer Spaniels with both having a different causative variant. The condition is inherited as an autosomal recessive trait and is associated with disease-causing variants in the COL4A4 gene. Type IV collagen is a major structural component of the glomerular basement membrane (GBM), where it contributes to the integrity of the glomerular filtration barrier. Mutations affecting type IV collagen can cause structural abnormalities of the GBM and progressive loss of renal function, with Alport syndrome also associated with abnormalities affecting the eye and ear (Savige et al., 2013; Miner 2012).

In English Cocker Spaniels, Davidson et al., (2007) identified a single-nucleotide substitution at base 115 of COL4A4, resulting in a premature stop codon in exon 3. The variant segregated with clinical status in affected dogs and obligate carriers. A different COL4A4 mutation was subsequently identified in English Springer Spaniels by Nowend et al., (2012), involving a single-nucleotide substitution at base 2806 that also results in a premature stop codon.

The c.115T variant has been reported at a frequency of 0.9% in English Cocker Spaniels in Brazil (Andrade et al., 2020). Genetic testing can identify dogs carrying the known disease-associated variants, supporting informed breeding decisions to reduce the risk of producing affected offspring. This genetic test is for the Cocker Type and does not test for the variant associated with Familial Nephropathy in English Springer Spaniels.

References

Davidson A.G., Bell R.J., Lees G.E., Kashtan C.E., Davidson G.S., Murphy K.E. Genetic Cause of Autosomal Recessive Hereditary Nephropathy in the English Cocker Spaniel. Journal of Veterinary Internal Medicine. 2007;21:394–401. doi: 10.1892/0891-6640(2007)21[394:gcoarh]2.0.co;2. [DOI] [PubMed] [Google Scholar]

De Brot S., Adamany J., Baiker K., Dhumeaux M., Allegrucci C., Polledo I., Grau-Roma L. Pathology in practice. Hereditary nephropathy (familial nephropathy) in an english cocker spaniel. Journal of the American Veterinary Medical Association. 2017;251:661–664. doi: 10.2460/javma.251.6.661. [DOI] [PubMed] [Google Scholar]

Miner J. H., The Glomerular Basement Membrane, Experimental Cell Research. (2012) 318, no. 9, 973–978, **https://doi.org/10.1016/j.yexcr.2012.02.031**, 2-s2.0-84859814741, 22410250.

Lees G.E. Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs. Journal of Veterinary Emergency and Critical Care (San Antonio) 2013;23:184–193. doi: 10.1111/vec.12031. [DOI] [PubMed] [Google Scholar]

Savige J., Gregory M., Gross O., Kashtan C., Ding J., and Flinter F., Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy, Journal of the American Society of Nephrology. (2013) 24, no. 3, 364–375, **https://doi.org/10.1681/ASN.2012020148**, 2-s2.0-84874616744, 23349312.

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.

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.

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.

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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.