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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
4
Conditions screened
Simple cheek swab
At-home sampling
UK laboratory
Tested in-house
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.
Hereditary Cataracts (HSF4)HC
Hereditary Cataracts (HC), or Juvenile Hereditary Cataracts, are a cloudiness of the lens of the eye, causing blurred or lost vision. They develop at an early age (9-15 months) and continue to develop until two to four years, causing blindness if untreated.
An autosomal recessive condition caused by a mutation in the HSF4 gene.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop HC, nor pass it on.
Carrier (N/HC): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (HC/HC): two copies; expected to develop HC Discuss with your vet.
Canine Multifocal Retinopathy (Type 1)CMR1
Canine Multifocal Retinopathy (CMR) is an eye disorder causing degeneration in multiple areas of the retina. Onset is usually between 11 and 16 weeks and is thought generally to not affect vision.
Canine Multifocal Retinopathy is an autosomal recessive condition caused by a mutation in the BEST1 gene.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop CMR, nor pass it on.
Carrier (N/CMR): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (CMR/CMR): two copies; expected to develop CMR. Discuss with your vet.
HyperuricosuriaHUU
Hyperuricosuria (HUU) is caused by a variant in the SLC2A9 gene, which affects how the body processes and removes uric acid. Affected dogs are at increased risk of developing urinary stones, which can cause signs such as blood in the urine, frequent or difficult urination, and in severe cases, urinary blockage. HUU is inherited as an autosomal recessive condition, meaning a dog must inherit two copies of the variant to be genetically affected.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop HUU, nor pass it on.
Carrier (N/HUU): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (HUU/HUU): two copies; expected to develop HUU. Discuss with your vet.
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.
Hereditary Cataracts (HSF4)HC
- Gene
- HSF4
- Variant
- CFA5:g.85286582_85286583insC
- Inheritance
- autosomal recessive
- OMIA
- OMIA001758 9615
Molecular mechanism
Hereditary Cataracts are an inherited eye disorder characterised by the development of cataracts, causing progressive clouding of the lens and potential vision loss or blindness. Cataracts can vary between breeds in their age of onset, progression, and severity. Affected dogs may develop changes in eye appearance, reduced vision, and difficulty navigating their surroundings. In severe cases, cataracts can progress to complete lens opacity and blindness (Mellersh et al., 2006; Rudd Garces et al., 2022). Multiple genetic variants have been identified as causes of hereditary cataract, with different variants associated with specific breeds.
The HSF4-related form was first identified by Mellersh et al., (2006) in Staffordshire Bull Terriers. The causative variant is a single nucleotide insertion in exon 9 of the HSF4 gene located on chromosome CFA5 (CFA5:g.85286582_85286583insC), which causes a frameshift and premature stop codon, resulting in a predicted truncated protein. This variant has also been associated with hereditary cataract in Boston Terriers.
The condition is most commonly inherited in an autosomal recessive manner for this variant, Australian Shephard variant is a different mutation. Genetic testing can identify dogs carrying known cataract-associated variants and may assist breeders in making informed breeding decisions to reduce the risk of affected offspring.
References
Mellersh, CS., Pettitt, L., Forman, OP., Vaudin, M., Barnett, KC. : Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol 9:369-78, 2006. Pubmed reference: 16939467. DOI: 10.1111/j.1463-5224.2006.00496.x.
Rudd Garces, G., Christen, M., Loechel, R., Jagannathan, V., Leeb, T. : FYCO1 frameshift deletion in Wirehaired Pointing Griffon dogs with juvenile cataract. Genes (Basel) 13:334, 2022. Pubmed reference: 35205377. DOI: 10.3390/genes13020334.
Canine Multifocal Retinopathy (Type 1)CMR1
- Gene
- BEST1
- Variant
- c.73C>T; p.Arg25Ter
- Inheritance
- autosomal recessive
- OMIA
- OMIA001554 9615
Molecular mechanism
Canine Multifocal Retinopathy (CMR) is an inherited ocular disorder characterised by multiple areas of retinal degeneration that become apparent from approximately 13 weeks of age. Affected dogs develop multiple sub-retinal lesions that progress to focal retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation as the disease advances (Grahn et al., 1998).
Canine Multifocal Retinopathy is inherited as an autosomal recessive condition. Three clinically similar forms of the disease (cmr1, cmr2 and cmr3) have been identified, each resulting from a different pathogenic variant in the BEST1 gene on canine chromosome 18 (CFA18) (Miyadera et al., 2012). The cmr1 form is caused by a nonsense mutation (c.73C\u0026gt;T; p.Arg25Ter), first identified by Guziewicz et al., (2007), while cmr3 is associated with a deletion and a c.1388G\u0026gt;T substitution in exon 10 of BEST1, first described by Zangerl et al., (2010). Although the clinical presentation of cmr1 and cmr3 is essentially indistinguishable, the underlying genetic variants differ. This test is for cmr1 only.
References
Grahn, BH., Philibert, H., Cullen, CL., Houston, DM., Semple, HA., Schmutz, SM. : Multifocal retinopathy of Great Pyrenees dogs. Vet Ophthalmol 1:211-221, 1998. Pubmed reference: 11397233.
Guziewicz, KE., Zangerl, B., Lindauer, SJ., Mullins, RF., Sandmeyer, LS., Grahn, BH., Stone, EM., Acland, GM., Aguirre, GD. : Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci 48:1959-67, 2007. Pubmed reference: 17460247. DOI: 10.1167/iovs.06-1374.
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.
Zangerl, B., Wickström, K., Slavik, J., Lindauer, S.J., Ahonen, S., Schelling, C., Lohi, H., Guziewicz, K.E., Aguirre, G.D. : Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis 16:2791-804, 2010. Pubmed reference: 21197113.
HyperuricosuriaHUU
- Gene
- SLC2A9
- Variant
- c.616G>T; p.Cys188Phe
- Inheritance
- autosomal recessive
- OMIA
- OMIA000256 9615
Molecular mechanism
Hyperuricosuria (HUU)or Urolithiasis is an inherited metabolic disorder characterised by impaired uric acid transport, resulting in increased urinary excretion and blood concentrations of uric acid. Affected dogs are predisposed to the formation of ammonium urate uroliths within the urinary tract, although not all dogs carrying the causative variant will develop the disease (Bannasch et al., 2008). Clinical signs are associated with stone formation and may include haematuria, pollakiuria, dysuria and urethral obstruction, while severe obstruction can result in systemic illness including anorexia, vomiting, collapse and metabolic disturbances (Bartges et al., 1999; Bartges and Callens, 2015).
Hyperuricosuria is inherited as an autosomal recessive condition; however, the SLC2A9 variant represents a genetic risk factor for urate urolithiasis rather than a definitive predictor of clinical disease. Bannasch et al., (2008) identified a missense mutation (c.616G\u0026gt;T; p.Cys188Phe) in the SLC2A9 gene on canine chromosome 3 (CFA3) as the causative variant. The variant is fixed in Dalmatians, with all dogs reported to be homozygous, but has also been identified at lower frequencies in several other breeds, including Labrador Retrievers, Bulldogs, German Shepherd Dogs and Pomeranians (Bannasch et al., 2008; Karmi et al., 2010; Cosgrove et al., 2015).
References
Bannasch, D., Henthorn, PS. : Changing paradigms in diagnosis of inherited defects associated with urolithiasis. Vet Clin North Am Small Anim Pract 39:111-25, 2009. Pubmed reference: 19038654. DOI: 10.1016/j.cvsm.2008.09.006.
Bannasch, D., Safra, N., Young, A., Karmi, N., Schaible, RS., Ling, GV. : Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 4:e1000246, 2008. Pubmed reference: 18989453. DOI: 10.1371/journal.pgen.1000246.
Bartges, J.W., Callens, A.J. : Urolithiasis. Vet Clin North Am Small Anim Pract 45:747-68, 2015. Pubmed reference: 26002797. DOI: 10.1016/j.cvsm.2015.03.001.
Bartges, J.W., Osborne, C.A., Lulich, J.P., Kruger, J.M., Sanderson, S.L., Koehler, L.A., Ulrich, L.K. : Canine urate urolithiasis. Etiopathogenesis, diagnosis, and management. Vet Clin North Am Small Anim Pract 29:161-91, xii-xiii, 1999. Pubmed reference: 10028157. DOI: 10.1016/s0195-5616(99)50010-7.
Cosgrove, L., Hammond, G., Mclauchlan, G. : Primary portal vein hypoplasia and SLC2A9 mutation associated with urate urolithiasis in a Spanish water dog. Can Vet J 56:1153-7, 2015. Pubmed reference: 26538670.
Karmi, N., Safra, N., Young, A., Bannasch, DL. : Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers. Am J Vet Res 71:909-14, 2010. Pubmed reference: 20673090. DOI: 10.2460/ajvr.71.8.909.
