Name: Jack Russell Terrier DNA Health Panel
Brand: The Pet Genetics Lab
Price: 149.0 GBP
Availability: InStock

Isohelix cheek swab DNA sample collection kit

Jack Russell Terrier DNA Health Panel

Turnaround: approx. 2 weeks

£149.00 - £149.00

£149.00

£149.00 - £149.00

£149.00

Component tests

3 component tests

Primary Lens Luxation (PLL) DNA TestPLLADAMTS17

Primary Lens Luxation (PLL) is an eye disorder which causes dislocation of the lens. Onset is variable but typically beyond two years of age, causing excessive blinking, squinting, tearing. If not treated it can lead to glaucoma and blindness.
An autosomal recessive condition caused by a mutation in the ADAMTS17 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
Hyperuricosuria (HUU) DNA TestHUUSLC2A9

The Jack Russell Terrier 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

3 Conditions screened

Simple cheek swab At-home sampling

UK laboratory Tested in-house

Primary Lens LuxationPLL

Primary Lens Luxation (PLL) is an eye disorder which causes dislocation of the lens. Onset is variable but typically beyond two years of age, causing excessive blinking, squinting, tearing. If not treated it can lead to glaucoma and blindness.
An autosomal recessive condition caused by a mutation in the ADAMTS17 gene.

How it's inherited

Recessive

What your result means

Clear (N/N): no copies; not expected to develop PLL, nor pass it on.

Carrier (N/PLL): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.

Affected (PRLL/PLL): two copies; expected to develop PLL. 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.

HyeruricosuriaHUU

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.

Primary Lens LuxationPLL

Gene: ADAMTS17
Variant: c.1473+1G>A (except shar-pei which is a different variant)
Inheritance: autosomal recessive
OMIA: OMIA000588 9615

Molecular mechanism

Primary Lens Luxation (PLL) is an inherited ocular disorder characterised by instability and displacement of the lens within the eye. The condition often remains undetected until the lens dislocates in one eye, with the second eye commonly affected weeks to months later (Farias et al., 2010; Colitz \u0026amp; O\u0026#39;Connell, 2015). Anterior displacement of the lens frequently obstructs aqueous humour drainage, resulting in acute glaucoma and irreversible vision loss if left untreated (Gould et al., 2011; Gharahkhani et al., 2015).
Primary Lens Luxation is inherited as an autosomal recessive condition. Farias et al., (2010) identified a splice-site mutation (c.1473+1G\u0026gt;A) in the ADAMTS17 gene on canine chromosome 3 (CFA3) as the causative variant, which has subsequently been reported in numerous breeds (Gould et al., 2011). Note: Not applicable to Shar-Peis.

References

Colitz, C.M., O\u0026#39;Connell, K. : Lens-related emergencies: Not always so clear. Top Companion Anim Med 30:81-5, 2015. Pubmed reference: 26494499. DOI: 10.1053/j.tcam.2015.08.001.

Gharahkhani, P., O\u0026#39;Leary, C.A., Duffy, D.L., Kyaw-Tanner, M. : Potential modifying loci associated with primary lens luxation, pedal hyperkeratosis, and ocular phenotypes in Miniature Bull Terriers. Invest Ophthalmol Vis Sci 56:8288-96, 2015. Pubmed reference: 26720482. DOI: 10.1167/iovs.15-18074.

Gould, D., Pettitt, L., McLaughlin, B., Holmes, N., Forman, O., Thomas, A., Ahonen, S., Lohi, H., O\u0026#39;Leary, C., Sargan, D., Mellersh, C. : ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Vet Ophthalmol 14:378-384, 2011. Pubmed reference: 22050825. DOI: 10.1111/j.1463-5224.2011.00892.x.

Farias, F.H., Johnson, G.S., Taylor, J.F., Giuliano, E., Katz, M.L., Sanders, D.N., Schnabel, R.D., McKay, S.D., Khan, S., Gharahkhani, P., O\u0026#39;Leary, C.A., Pettitt, L., Forman, O.P., Boursnell, M., McLaughlin, B., Ahonen, S., Lohi, H., Hernandez-Merino, E., Gould, D.J., Sargan, D.R., Mellersh, C. : An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci 51:4716-21, 2010. Pubmed reference: 20375329. DOI: 10.1167/iovs.09-5142.

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.

HyeruricosuriaHUU

Gene: SLC2A9
Variant: c.616G>T; p.Cys188Phe substitution, missense
Inheritance: autosomal recessive
OMIA: OMIA001033 9615

Molecular mechanism

Hyperuricosuria and Hyperuricemia (HUU) 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 and Hyperuricemia 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

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.

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.

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., 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.