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

Isohelix cheek swab DNA sample collection kit

Cavalier King Charles Spaniel DNA Health Panel

Turnaround: approx. 2 weeks

£149.00 - £149.00

£149.00

£149.00 - £149.00

£149.00

Component tests

4 component tests

Curly Coat Dry Eye (CCDE) DNA TestCCDEFAM83H

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.
NOTE: OMIA call it: Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID) CHECK
Inheritance: autosomal recessive
View this test on its own
Episodic Falling (EF) DNA TestEFBCAN

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.
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
Macrothrombocytopaenia (MTCP) DNA TestMTCPTUBB1

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.
Inheritance: autosomal recessive
View this test on its own

The Cavalier King Charles 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

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.
NOTE: OMIA call it: Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID) CHECK

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 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.

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.

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; p.Pro326Hisfs*258 deletion, small (<20) frameshift
Inheritance: autosomal recessive
OMIA: OMIA001683 9615

Molecular mechanism

Curly Coat Dry Eye (CCDE) 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; 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

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.

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.

Episodic FallingEF

Gene: BCAN
Variant: ? NC_006589.3:g.41325010_41340731delinsAAGGCC XM_005622698.1:c.-13991_466+85delinsGGCCTT
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

References

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.

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.

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.

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.

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. FACT CHECK

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.