Name: German Shepherd DNA Health Panel
Brand: The Pet Genetics Lab
Price: 149.0 GBP
Availability: InStock

Isohelix cheek swab DNA sample collection kit

German Shepherd DNA Health Panel

Turnaround: approx. 2 weeks

£149.00 - £149.00

£149.00

£149.00 - £149.00

£149.00

Component tests

3 component tests

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
Multidrug Resistance (MDR1) DNA TestMDR1ABCB1

Multidrug Resistance 1 (MDR1), or Invermectin Sensitivity, causes reactions to certain classes of drug. An inability to metabolize 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

The German Shepherd 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

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.

Multidrug ResistanceMDR1

Multidrug Resistance 1 (MDR1), or Invermectin Sensitivity, causes reactions to certain classes of drug. An inability to metabolize 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. 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 management with your vet.

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.

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.