Name: Clumber Spaniel DNA Health Panel
Brand: The Pet Genetics Lab
Price: 149.0 GBP
Availability: InStock

Isohelix cheek swab DNA sample collection kit

Clumber Spaniel DNA Health Panel

Turnaround: approx. 2 weeks

£149.00 - £149.00

£149.00

£149.00 - £149.00

£149.00

Component tests

3 component tests

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
Degenerative Myelopathy (DM) DNA TestDMSOD1 (All breeds except 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.
Inheritance: autosomal recessive
View this test on its own
Progressive Retinal Atrophy (PRA-cord1/rcd4) DNA TestPRA-cord1/rcd4RPGRIP1

Progressive Retinal Atrophy (PRA) is a group of eye disorders which cause progressive degeneration of the retina through thinning and decreased blood flow. Depending on the variant the rod (dim light) or cone (bright light) photoreceptor cells of the eye may also be affected and age of onset and speed of progression can vary. Affected dogs typically have initial vision loss in low light, then peripheral vision loss, and eventually total blindness.
Inheritance: autosomal recessive
View this test on its own

The Clumber Spaniel 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

3 Conditions screened

Simple cheek swab At-home sampling

UK laboratory Tested in-house

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.

Degenerative Myelopathy (All Breeds Except BMD)DM

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. Useful to know for monitoring and breeding.

Progressive Retinal Atrophy -cord1/rcd4PRA-cord1/rcd4

Progressive Retinal Atrophy (PRA) is a group of eye disorders which cause progressive degeneration of the retina through thinning and decreased blood flow. Depending on the variant the rod (dim light) or cone (bright light) photoreceptor cells of the eye may also be affected and age of onset and speed of progression can vary. Affected dogs typically have initial vision loss in low light, then peripheral vision loss, and eventually total blindness.

How it's inherited

Recessive

Exercise-Induced CollapseEIC

Gene: DNM1
Variant: c.767G>T; p.Arg256Leu missense
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

CHECK border collie version not yet mapped

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.

Degenerative Myelopathy (All Breeds Except BMD)DM

Gene: SOD1 (All breeds except BMD)
Variant: c.118G>A (p.Glu40Lys) (All breeds except BMD)
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; however, in Bernese Mountain Dogs a second disease-associated allele, SOD1.52A\u0026gt;T, has been identified and was concluded to be limited to this breed (Zeng et al., 2014). Consequently, the genetic test is offered in two versions: one for Bernese Mountain Dogs and one for all other breeds.

References

References

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.

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.

Progressive Retinal Atrophy -cord1/rcd4PRA-cord1/rcd4

Gene: RPGRIP1
Inheritance: autosomal recessive
OMIA: OMIA001432 9615

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-RPGRIP1 (CORD1/crd4): Progressive retinal atrophy associated with RPGRIP1 is inherited as an autosomal recessive condition. In Miniature Long-Haired Dachshunds, Mellersh et al., (2006) identified a 44-bp insertion in the RPGRIP1 gene that results in a frameshift and premature protein truncation. Although additional genetic factors may influence disease severity, this variant remains the primary genetic marker used for testing (Miyadera et al., 2012).

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).