Name: American Bulldog DNA Health Panel
Brand: The Pet Genetics Lab
Price: 99.0 GBP
Availability: InStock

Isohelix cheek swab DNA sample collection kit

American Bulldog DNA Health Panel

Turnaround: approx. 2 weeks

£99.00 - £99.00

£99.00

£99.00 - £99.00

£99.00

Component tests

2 component tests

Canine Multifocal Retinopathy (CMR1) DNA TestCMR1BEST1

Canine Multifocal Retinopathy (CMR) is an eye disorder causing degeneration in multiple areas of the retina. Onset is usually between 11 and 16 weeks and is thought generally to not affect vision.

Canine Multifocal Retinopathy is an autosomal recessive condition caused by a mutation in the BEST1 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

The American Bulldog 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

2 Conditions screened

Simple cheek swab At-home sampling

UK laboratory Tested in-house

Canine Multifocal Retinopathy CMR1

Canine Multifocal Retinopathy (CMR) is an eye disorder causing degeneration in multiple areas of the retina. Onset is usually between 11 and 16 weeks and is thought generally to not affect vision.

Canine Multifocal Retinopathy is an autosomal recessive condition caused by a mutation in the BEST1 gene.

How it's inherited

Recessive

What your result means

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

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

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

Canine Multifocal Retinopathy CMR1

Gene: BEST1
Variant: Type 1: c.73C>T; p.Arg25Ter, substitution, nonsense (stop-gain) Type 3: ____??, deletion, small(<=20), frameshift
Inheritance: autosomal recessive
OMIA: OMIA001554 9615

Molecular mechanism

Canine Multifocal Retinopathy (CMR) is an inherited ocular disorder characterised by multiple areas of retinal degeneration that become apparent from approximately 13 weeks of age. Affected dogs develop multiple sub-retinal lesions that progress to focal retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation as the disease advances (Grahn et al., 1998).
Canine Multifocal Retinopathy is inherited as an autosomal recessive condition. Three clinically similar forms of the disease (cmr1, cmr2 and cmr3) have been identified, each resulting from a different pathogenic variant in the BEST1 gene on canine chromosome 18 (CFA18) (Miyadera et al., 2012). The cmr1 form is caused by a nonsense mutation (c.73C\u0026gt;T; p.Arg25Ter), first identified by Guziewicz et al., (2007), while cmr3 is associated with a deletion and a c.1388G\u0026gt;T substitution in exon 10 of BEST1, first described by Zangerl et al., (2010). Although the clinical presentation of cmr1 and cmr3 is essentially indistinguishable, the underlying genetic variants differ; therefore, separate genetic tests are available, with the appropriate test selected according to the breed being screened.

References

Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.

Zangerl, B., Wickström, K., Slavik, J., Lindauer, S.J., Ahonen, S., Schelling, C., Lohi, H., Guziewicz, K.E., Aguirre, G.D. : Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis 16:2791-804, 2010. Pubmed reference: 21197113.

Guziewicz, KE., Zangerl, B., Lindauer, SJ., Mullins, RF., Sandmeyer, LS., Grahn, BH., Stone, EM., Acland, GM., Aguirre, GD. : Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci 48:1959-67, 2007. Pubmed reference: 17460247. DOI: 10.1167/iovs.06-1374.

Grahn, BH., Philibert, H., Cullen, CL., Houston, DM., Semple, HA., Schmutz, SM. : Multifocal retinopathy of Great Pyrenees dogs. Vet Ophthalmol 1:211-221, 1998. Pubmed reference: 11397233.

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.