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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
3
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.
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.
Multidrug ResistanceMDR1
Multidrug Resistance 1 (MDR1), or Invermectin Sensitivity, causes reactions to certain classes of drug. An inability to metabolise these drugs can cause severe reactions or death even at low doses, and so vets should be made aware of this disorder.
An autosomal recessive condition caused by a mutation in the ABCB1 gene.
How it's inherited
Incomplete Dominant
What your result means
Clear (N/N): your dog has no copies of the MDR1 variant and will not develop the condition, nor pass it on.
Carrier (N/MDR1): your dog has one copy. There is a high likelihood of your dog developing the disease. Discuss with your vet. Due to the dominant inheritance it is not recommended to breed carrier dogs, even to clear dogs.
Affected (MDR1/MDR1): your dog has two copies and is expected to develop the condition. 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.
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.
Multidrug ResistanceMDR1
- Gene
- ABCB1
- Variant
- c.296_299del4
- Inheritance
- incomplete dominance
- OMIA
- OMIA001402 9615
Molecular mechanism
Multidrug resistance (MDR1), or Ivermectin sensitivity, is an inherited drug sensitivity disorder caused by a mutation in the ABCB1 (MDR1) gene. The condition is inherited in an autosomal incomplete dominant manner, meaning dogs carrying one copy of the mutation may show increased sensitivity to certain medications, while dogs with two copies are at the greatest risk of severe adverse reactions (Mealey et al., 2003; Mealey \u0026amp; Meurs, 2008). The causative variant, first identified by Mealey et al., (2001), is a 4 bp deletion (c.296_299del4) that causes a frameshift and premature stop codon, resulting in loss of normal P-glycoprotein function.
P-glycoprotein is responsible for preventing certain drugs from accumulating within the brain. Dogs carrying the MDR1 mutation are unable to effectively transport these medications out of the central nervous system, making them susceptible to drug toxicity. Clinical signs can include tremors, excessive salivation, lethargy, disorientation, weakness, ataxia, blindness, seizures, coma, and in severe cases, death following exposure to affected medications (Mealey et al., 2001; Bissonnette et al., 2009; Gaens et al., 2019).
The MDR1 mutation is most commonly found in herding breeds, although its frequency varies considerably between breeds and populations (Mealey \u0026amp; Meurs, 2008; Gramer et al., 2011; Lerdkrai et al., 2021). Genetic testing helps identify dogs at increased risk, allowing appropriate medication choices to reduce the likelihood of adverse drug reactions.
References
Bissonnette, S., Paradis, M., Daneau, I., Silversides, DW. : The ABCB1-1Delta mutation is not responsible for subchronic neurotoxicity seen in dogs of non-collie breeds following macrocyclic lactone treatment for generalized demodicosis. Vet Dermatol 20:60-6, 2009. Pubmed reference: 19152588. DOI: 10.1111/j.1365-3164.2008.00731.x.
Gaens, D., Leithäuser, C., Hamann, M., Geyer, J. : Adverse drug reactions after administration of emodepside/praziquantel (Profender®) in an MDR1-mutant Australian Shepherd dog: Case report. Front Vet Sci 6:296, 2019. Pubmed reference: 31555677. DOI: 10.3389/fvets.2019.00296.
Gramer, I., Leidolf, R., Doring, B., Klintzsch, S., Kramer, EM., Yalcin, E., Petzinger, E., Geyer, J. : Breed distribution of the nt230(del4) MDR1 mutation in dogs. Vet J 189:67-71, 2011. Pubmed reference: 20655253. DOI: 10.1016/j.tvjl.2010.06.012.
Lerdkrai, C., Phungphosop, N. : Prevalence of the MDR1 gene mutation in herding dog breeds and Thai Ridgebacks in Thailand. Vet World 14:3015-3020, 2021. Pubmed reference: 35017851. DOI: 10.14202/vetworld.2021.3015-3020.
Mealey, K.L., Meurs, K.M. : Breed distribution of the ABCB1-1Delta (multidrug sensitivity) polymorphism among dogs undergoing ABCB1 genotyping. J Am Vet Med Assoc 233:921-4, 2008. Pubmed reference: 18795852. DOI: 10.2460/javma.233.6.921.
Mealey, KL., Northrup, NC., Bentjen, SA. : Increased toxicity of P-glycoprotein-substrate chemotherapeutic agents in a dog with the MDR1 deletion mutation associated with ivermectin sensitivity. J Am Vet Med Assoc 223:1453-5, 1434, 2003. Pubmed reference: 14627096.
Mealey, KL., Bentjen, SA., Gay, JM., Cantor, GH. : Ivermectin sensitivity in collies is associated with a deletion mutation of the mdr1 gene. Pharmacogenetics 11:727-33, 2001. Pubmed reference: 11692082. DOI: 10.1097/00008571-200111000-00012.
