Name: Irish Setter DNA Health Panel
Brand: The Pet Genetics Lab
Price: 149.0 GBP
Availability: InStock

Isohelix cheek swab DNA sample collection kit

Irish Setter DNA Health Panel

Turnaround: approx. 2 weeks

£149.00 - £149.00

£149.00

£149.00 - £149.00

£149.00

Component tests

2 component tests

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
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 condition caused by a mutation in the VWF gene.
Inheritance: autosomal recessive
View this test on its own

The Irish Setter 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

2 Conditions screened

Simple cheek swab At-home sampling

UK laboratory Tested in-house

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.

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 condition caused by a mutation in the VWF gene.

How it's inherited

Recessive

What your result means

Type 1: autosomal which means they affect males and females equally.

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 (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.

Von Willebrand Disease Type 1VWD1

Gene: VWF
Variant: Type 1: 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). The appropriate genetic test should be selected according to both the breed and the form of von Willebrand Disease being investigated. If you are unsure then please send us an email.

References

NOTE: OMIA Type 1 -\u0026quot;Control:Use of DNA diagnostics as a sole diagnostic tool for vWDI is not advised as the c.7437A variant has been reported to be only partially associated with the disorder in the Doberman Pinscher breed and the Kromfohrländer breed (incomplete penetrance)\u0026quot;

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.

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.

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.

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.

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.

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.

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.

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.

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.