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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
Curly Coat Dry EyeCCDE
Curly Coat Dry Eye (CCDE) causes dry eyes due to abnormal tear production which can lead to eye ulcers. It also causes frizzy hair as well as flaky skin, thickened footpads, and abnormal nails which can make standing and walking painful.
An autosomal recessive condition caused by a mutation in the FAM83H gene.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop CCDE, nor pass it on.
Carrier (N/CCDE): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (CCDE/CCDE): two copies; expected to develop CCDE. Discuss with your vet.
Episodic FallingEF
Episodic Falling (EF) is a muscle condition which causes episodes, often following exercise, of varying length and severity. Muscles, mostly of the limbs, will spasm which can cause collapse.
An autosomal recessive condition caused by a mutation in the BCAN gene.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop EF, nor pass it on.
Carrier (N/EF): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (EF/EF): two copies; expected to develop EF. Discuss 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.
MacrothrombocytopaeniaMTCP
Macrothrombocytopaenia (MTCP) is a condition which causes a low blood platelet number but increased platelet size, with these two factors often resulting in an overall normal platelet function. It is important to inform your vet of this condition so they are not concerned by a low platelet count on blood tests.
An autosomal recessive condition caused by a mutation in the TUBB1 gene.
Note: this is the King Charles Cavalier Spaniel variant only.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop MTCP, nor pass it on.
Carrier (N/MTCP): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (MTCP/MTCP): two copies; expected to develop MTCP. Discuss with your vet.
Curly Coat Dry EyeCCDE
- Gene
- FAM83H
- Variant
- c.977delC
- Inheritance
- autosomal recessive
- OMIA
- OMIA001683 9615
Molecular mechanism
Curly Coat Dry Eye (CCDE) also called Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID), is a rare inherited disorder affecting Cavalier King Charles Spaniels, characterised by the combination of severe keratoconjunctivitis sicca (dry eye) and a distinctive dry, curly coat. Affected dogs typically develop reduced tear production, resulting in red, painful eyes with thick mucoid discharge, recurrent conjunctivitis and an increased risk of corneal ulceration. Skin abnormalities include a rough, curly coat, scaling, flaky skin, hyperpigmentation, footpad hyperkeratosis and abnormal nail growth (Barnett, 2006; Hartley et al., 2012).
CCDE is inherited as an autosomal recessive trait. Forman et al., (2012) identified a frameshift variant in the FAM83H gene (c.977delC or p.Pro326Hisfs*258) as the causative mutation in Cavalier King Charles Spaniels. Genetic testing can identify affected and carrier dogs, allowing informed breeding decisions to reduce the incidence of this debilitating condition (Forman et al., 2012).
References
Barnett, K.C. : Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel. J Small Anim Pract 47:524-8, 2006. Pubmed reference: 16961470. DOI: 10.1111/j.1748-5827.2006.00107.x.
Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. PLoS Genet 8:e1002462, 2012. Pubmed reference: 22253609. DOI: 10.1371/journal.pgen.1002462.
Hartley, C., Donaldson, D., Smith, K.C., Henley, W., Lewis, T.W., Blott, S., Mellersh, C., Barnett, K.C. : Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in 25 Cavalier King Charles spaniel dogs. Part I: clinical signs, histopathology, and inheritance. Vet Ophthalmol 15:315-26, 2012. Pubmed reference: 22212237. DOI: 10.1111/j.1463-5224.2011.00986.x.
Episodic FallingEF
- Gene
- BCAN
- Variant
- 15.7kb deletion in the BCAN gene removing the first 3 exons
- Inheritance
- autosomal recessive
- OMIA
- OMIA001592 9615
Molecular mechanism
Episodic Falling- BCAN related (EF) is an inherited neurological disorder affecting Cavalier King Charles Spaniels, characterised by episodes of increased muscle stiffness (hypertonicity) that are typically triggered by exercise, excitement, stress or apprehension. Clinical signs usually begin between 14 weeks and 4 years of age and include a stiff or \u0026quot;bunny-hopping\u0026quot; gait, stumbling, arching of the back, facial muscle stiffness and collapse into a characteristic \u0026quot;deer-stalking\u0026quot; or \u0026quot;praying\u0026quot; posture while remaining fully conscious. Episodes generally last around 10 minutes, after which affected dogs recover completely and appear neurologically normal between episodes (Herrtage \u0026amp; Palmer, 1983; Wright et al., 1987; Gill et al., 2012).
EF is inherited as an autosomal recessive trait. Independent studies by Gill et al., (2012) and Forman et al., (2012) identified a 15.7 kb deletion in the BCAN (brevican) gene as the causative variant in Cavalier King Charles Spaniels. Frequency of carriers are common with 12.9% in USA Cavalier King Charles Spaniels (Gill et al., 2012), highlighting the importance of using genetic testing to identify affected and carrier dogs, supporting accurate diagnosis and informed breeding decisions to reduce the incidence of this condition.
References
Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. PLoS Genet 8:e1002462, 2012. Pubmed reference: 22253609. DOI: 10.1371/journal.pgen.1002462.
Gill, J.L., Tsai, K.L., Krey, C., Noorai, R.E., Vanbellinghen, J.F., Garosi, L.S., Shelton, G.D., Clark, L.A., Harvey, R.J. : A canine BCAN microdeletion associated with episodic falling syndrome. Neurobiol Dis 45:130-6, 2012. Pubmed reference: 21821125. DOI: 10.1016/j.nbd.2011.07.014.
Herrtage, M.E., Palmer, A.C. : Episodic falling in the cavalier King Charles spaniel. Vet Rec 112:458-9, 1983. Pubmed reference: 6868317. DOI: 10.1136/vr.112.19.458.
Wright, J.A., Smyth, J.B., Brownlie, S.E., Robins, M. : A myopathy associated with muscle hypertonicity in the Cavalier King Charles Spaniel. J Comp Pathol 97:559-65, 1987. Pubmed reference: 3680644. DOI: 10.1016/0021-9975(87)90006-5.
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.
MacrothrombocytopaeniaMTCP
- Gene
- TUBB1
- Variant
- c.745 G>A
- Inheritance
- autosomal recessive
- OMIA
- OMIA002434 9615
Molecular mechanism
Thrombocytopenia, TUBB1-related is an inherited platelet disorder characterised by macrothrombocytopenia, in which affected dogs have reduced platelet numbers and enlarged platelets. The condition is inherited as an autosomal recessive trait and has been reported in Cavalier King Charles Spaniels, Norfolk Terriers and Cairn Terriers (Pedersen et al., 2002; Gelain et al., 2014).
In Cavalier King Charles Spaniels, Davis et al., (2008) identified a missense variant (c.745G\u0026gt;A; p.D249N) in the TUBB1 gene, encoding beta-1 tubulin, which correlated with the observed macrothrombocytopenia. A different TUBB1 missense variant was subsequently identified as the likely cause of a similar disorder in Norfolk and Cairn Terriers (Gelain et al., 2014).
The condition is generally asymptomatic, with the thrombocytopenia identified through blood analysis rather than clinical signs (Pedersen et al., 2002). Genetic testing can identify dogs carrying the known breed-associated variants, supporting informed breeding decisions. Note: only the King Charles Cavalier Spaniel TUBB1 variant is offered on this test, not the Norfolk/Cairn Terrier version.
References
Davis, B., Toivio-Kinnucan, M., Schuller, S., Boudreaux, MK. : Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. J Vet Intern Med 22:540-5, 2008. Pubmed reference: 18466252. DOI: 10.1111/j.1939-1676.2008.0085.x.
Gelain, M.E., Bertazzolo, W., Tutino, G., Pogliani, E., Cian, F., Boudreaux, M.K. : A novel point mutation in the β1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers. Vet Clin Pathol 43:317-21, 2014. Pubmed reference: 25060661. DOI: 10.1111/vcp.12168.
Pedersen, H.D., Haggstrom, J., Olsen, L.H., Christensen, K., Selin, A., Burmeister, M.L., Larsen, H. : Idiopathic asymptomatic thrombocytopenia in Cavalier King Charles Spaniels is an autosomal recessive trait J Vet Intern Med 16:169-73, 2002. Pubmed reference: 11899033. DOI: 10.1892/0891-6640(2002)016\u0026lt;0169:iatick\u0026gt;2.3.co;2.
