Bulldog Pack: Cystinuria, Hyperuricosuria (HUU/SLC), Degenerative Myelopathy (DM exon 2), Canine Multifocal Retinopathy (CMR1), Robinow-like Syndrome (DVL2)
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Panel genético multienfermedad para las razas bulldog (Antiguo bulldog inglés, Bulldog continental, Bulldog francés y Bulldog inglés, según la tarifa del laboratorio) que agrupa cinco pruebas moleculares: cistinuria tipo I-A (haplotipo SLC3A1), hiperuricosuria (HUU, SLC2A9), mielopatía degenerativa (DM, variante del exón 2 de SOD1), retinopatía multifocal canina 1 (CMR1, BEST1) y la variante de DVL2 asociada a cola en tornillo y anomalías vertebrales caudales (fenotipo Robinow-like del Bulldog). El panel es complementario, no sustitutivo, del examen urológico, oftalmológico y ortopédico en la selección reproductiva.
Diseases included in this pack
Bulldog cystinuria (French/English) - SLC3A1 haplotype (Autosomal recessive: both haplotype variants in homozygosity for the disease (type I-A, not androgen-dependent).)
Genetic test for type I-A cystinuria in French and English Bulldogs: detects the SLC3A1 haplotype c.[574A>G;2092A>G] (p.[(I192V);(S696G)]), associated with defective renal reabsorption of cystine with urolithiasis and risk of urinary obstruction. The molecular test is complementary —not a substitute— to urinalysis a…
Hyperuricosuria (SLC) (Autosomal recessive)
Hyperuricosuria is a defect of renal uric acid transport caused by a variant of the SLC2A9 gene, historically described as G616T (p.Cys188Phe) and also noted as Cys181Phe depending on the reference transcript. It increases urinary urate excretion and the risk of urate uroliths. The Dalmatian is the paradigmatic breed.
Screw Tail / Robinow-like Syndrome (DVL2) (Autosomal recessive, fully penetrant for caudal vertebral malformations (Mansour et al. 2018); variable penetrance between breeds for thoracic ones.)
Variant of the DVL2 gene (dishevelled-2, Wnt pathway) associated with caudal vertebral malformations (screw tail) and a bulldog-type brachycephalic phenotype, within the spectrum of human Robinow syndrome. It is a developmental skeletal trait, not a platelet disease: this test does NOT evaluate macrothrombocytopenia…
Canine Degenerative Myelopathy exon 2 (All Breeds) (Autosomal recessive with age-dependent and incomplete penetrance)
Neurodegenerative disease of the spinal cord, the canine equivalent of human amyotrophic lateral sclerosis (ALS) due to SOD1 mutations. The classic variant (exon 2 of the SOD1 gene, described in 'all breeds') produces a dysfunctional superoxide dismutase 1 and degeneration of the long spinal tracts, with progressive…
Canine Multifocal Retinopathy (CMR1/2/3) (Ask About Breeds) (Autosomal recessive (OMIA:001444-9615).)
Canine multifocal retinopathy 1 (CMR1) is a hereditary ocular disease caused by a mutation in BEST1. It produces multiple areas of retinal degeneration (raised subretinal lesions, with focal tapetal hyperreflectivity) that develop around 13 weeks of age and progress with age. It is usually of benign course and does…
Frequently asked questions
What does this pack include?
It includes 5 hereditary disease tests: Bulldog cystinuria (French/English) - SLC3A1 haplotype, Hyperuricosuria (SLC), Screw Tail / Robinow-like Syndrome (DVL2), Canine Degenerative Myelopathy exon 2 (All Breeds)…. All are analysed in our laboratory.
What do the results mean?
The report shows the genotype and inheritance pattern of each variant. It is a breeding-decision tool: it guides which crosses to avoid, it does not guarantee the absence of disease.
How is the sample taken?
Buccal swab or 0.5–1 ml EDTA blood. The kit ships free to Spain, the EU and the UK.
