Name: French Bulldog DNA Health Panel
Brand: The Pet Genetics Lab
Price: 149.0 GBP
Availability: InStock

Isohelix cheek swab DNA sample collection kit

French Bulldog DNA Health Panel

Turnaround: approx. 2 weeks

£149.00 - £149.00

£149.00

£149.00 - £149.00

£149.00

Component tests

4 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
Hereditary Cataracts (HC) DNA TestHCHSF4

Hereditary Cataracts (HC), or Juvenile Hereditary Cataracts, are a cloudiness of the lens of the eye, causing blurred or lost vision. They develop at an early age (9-15 months) and continue to develop until two to four years, causing blindness if untreated.

An autosomal recessive, or dominant with incomplete penetrance (Australian Shepherd Type), condition caused by a mutation in the HSF4 gene.
Inheritance: complex
View this test on its own
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
Hyperuricosuria (HUU) DNA TestHUUSLC2A9

The French 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

4 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.

Hereditary Cataracts (HSF4)HC

Hereditary Cataracts (HC), or Juvenile Hereditary Cataracts, are a cloudiness of the lens of the eye, causing blurred or lost vision. They develop at an early age (9-15 months) and continue to develop until two to four years, causing blindness if untreated.

An autosomal recessive, or dominant with incomplete penetrance (Australian Shepherd Type), condition caused by a mutation in the HSF4 gene.

How it's inherited

Recessive (boston terrier and staffordshire bull terrier) and dominant (australian shephards)

What your result means

Recessive:

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

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

Affected (HC/HC): two copies; expected to develop HC Discuss with your vet.

Dominant:

Clear (N/N): your dog has no copies of the HC variant and will not develop the condition, nor pass it on.

Carrier (N/HC): your dog has one copy and is expected to develop the condition. Discuss management with your vet. Not advised to be used for breeding, even to clear animals.

Two copies (HC/HC): your dog has two copies and is expected to develop the condition. Discuss management with your vet.

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.

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.

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.

Hereditary Cataracts (HSF4)HC

Gene: HSF4
Variant: Staffordshire bull and Boston terrier CFA5:g.85286582_85286583insC insertion, small(<20) frameshift, Australian Shephards g.85286582delC deletion, small (<20) frameshift
Inheritance: complex
OMIA: OMIA001758 9615
Reported frequency: NOTE: Australian Shepherd type and hereditary cataracts test versions available. CHECK if the other version is FYCO1

Molecular mechanism

Hereditary Cataracts are an inherited eye disorder characterised by the development of cataracts, causing progressive clouding of the lens and potential vision loss or blindness. Cataracts can vary between breeds in their age of onset, progression, and severity. Affected dogs may develop changes in eye appearance, reduced vision, and difficulty navigating their surroundings. In severe cases, cataracts can progress to complete lens opacity and blindness (Mellersh et al., 2006; Rudd Garces et al., 2022). Multiple genetic variants have been identified as causes of hereditary cataract, with different variants associated with specific breeds.
The HSF4-related form was first identified by Mellersh et al., (2006) in Staffordshire Bull Terriers. The causative variant is a single nucleotide insertion in exon 9 of the HSF4 gene located on chromosome CFA5 (CFA5:g.85286582_85286583insC), which causes a frameshift and premature stop codon, resulting in a predicted truncated protein. This variant has also been associated with hereditary cataract in Boston Terriers.
The condition is most commonly inherited in an autosomal recessive manner, although inheritance patterns may vary between breeds. Notably, the Australian Shephard had a dominant pattern of inheritance. Genetic testing can identify dogs carrying known cataract-associated variants and may assist breeders in making informed breeding decisions to reduce the risk of affected offspring.

References

Rudd Garces, G., Christen, M., Loechel, R., Jagannathan, V., Leeb, T. : FYCO1 frameshift deletion in Wirehaired Pointing Griffon dogs with juvenile cataract. Genes (Basel) 13:334, 2022. Pubmed reference: 35205377. DOI: 10.3390/genes13020334.

Mellersh, CS., Pettitt, L., Forman, OP., Vaudin, M., Barnett, KC. : Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol 9:369-78, 2006. Pubmed reference: 16939467. DOI: 10.1111/j.1463-5224.2006.00496.x.

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.

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.