Name: Shetland Sheepdog DNA Health Panel
Brand: The Pet Genetics Lab
Price: 111.75 GBP
Availability: InStock

Shetland Sheepdog DNA Health Panel

Turnaround: approx. 2 weeks

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£149.00

£149.00 - £149.00

£149.00

£111.75

£111.75 - £111.75

£111.75

Tests included in the panel:

Collie Eye Anomaly (CEA) DNA TestCEANHEJ1

Collie Eye Anomaly (CEA), also known as Choroidal Hypoplasia, is an inherited eye condition caused by a variant associated with the NHEJ1 gene. It affects the development of the eye and can range from no obvious vision problems to more serious changes that may lead to partial or complete blindness. CEA is inherited as an autosomal recessive condition, meaning a dog must inherit two copies of the associated variant to be genetically affected.
Inheritance: autosomal recessive
View this test on its own
Multidrug Resistance (MDR1) DNA TestMDR1ABCB1

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.
Inheritance: incomplete dominance
View this test on its own
Degenerative Myelopathy (DM) DNA TestDMSOD1

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

The Shetland Sheepdog 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

Collie Eye AnomalyCEA

Collie Eye Anomaly (CEA), also known as Choroidal Hypoplasia, is an inherited eye condition caused by a variant associated with the NHEJ1 gene. It affects the development of the eye and can range from no obvious vision problems to more serious changes that may lead to partial or complete blindness. CEA is inherited as an autosomal recessive condition, meaning a dog must inherit two copies of the associated variant to be genetically affected.

How it's inherited

Recessive

What your result means

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

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

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

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.

Collie Eye AnomalyCEA

Gene: NHEJ1
Variant: 37:g.28,697,542–28,705,340del
Inheritance: autosomal recessive
OMIA: OMIA000218 9615

Molecular mechanism

Collie Eye Anomaly (CEA), now more broadly referred to as Choroidal Hypoplasia, is an inherited developmental disorder of the eye characterised primarily by underdevelopment of the choroid, with severity ranging from no detectable visual impairment to complete blindness. Affected dogs may also develop colobomas, retinal folds and, in more severe cases, retinal detachment and intraocular haemorrhage, which can result in permanent vision loss (Lowe et al., 2003; Fredholm et al., 2016).
Collie Eye Anomaly is inherited as an autosomal recessive condition with variable clinical expression. Parker et al., (2007) identified a 7.8 kb deletion (37.28,697,542–28,705,340del) associated with CEA within the NHEJ1 gene on canine chromosome 37 (CFA37), which is widely used as the genetic marker for CEA screening. Although subsequent studies have suggested that this deletion may be linked to, rather than be the causative variant in, some breed populations, it remains strongly associated with the disease and is widely used for genetic testing (Fredholm et al., 2016; Brown et al., 2018; Clark et al., 2023).

References

Brown, E.A., Thomasy, S.M., Murphy, C.J., Bannasch, D.L. : Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation). Vet Ophthalmol 21:144-150, 2018. Pubmed reference: 28702949. DOI: 10.1111/vop.12488.

Clark, J.A., Anderson, H., Donner, J., Pearce-Kelling, S., Ekenstedt, K.J. : Global frequency analyses of canine progressive rod-cone degeneration-progressive retinal atrophy and Collie eye anomaly using commercial genetic testing data. Genes (Basel) 14:2093, 2023. Pubmed reference: 38003037. DOI: 10.3390/genes14112093.

Fredholm, M., Larsen, R.C., Jönsson, M., Söderlund, M.A., Hardon, T., Proschowsky, H.F. : Discrepancy in compliance between the clinical and genetic diagnosis of choroidal hypoplasia in Danish Rough Collies and Shetland Sheepdogs. Anim Genet 47:250-2, 2016. Pubmed reference: 26732749. DOI: 10.1111/age.12405.

Lowe, JK., Kukekova, AV., Kirkness, EF., Langlois, MC., Aguirre, GD., Acland, GM., Ostrander, EA. : Linkage mapping of the primary disease locus for collie eye anomaly. Genomics 82:86-95, 2003. Pubmed reference: 12809679.

Parker, H.G., Kukekova, A.V., Akey, D.T., Goldstein, O., Kirkness, E.F., Baysac, K.C., Mosher, D.S., Aguirre, G.D., Acland, G.M., Ostrander, E.A. : Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Res 17:1562-71, 2007. Pubmed reference: 17916641. DOI: 10.1101/gr.6772807

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.

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.