French Bulldog Pack: Hereditary Cataract (HSF4), Chondrodysplasia and Chondrodystrophy (CDPA & CDDY, IVDD Risk), Cystinuria, Congenital Hypothyroidism (CHG), Degenerative Myelopathy (DM exon 2)
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Panel genético multienfermedad para el Bulldog francés que reúne cinco pruebas moleculares: catarata hereditaria (HSF4), condrodisplasia y condrodistrofia con riesgo de disco (CDPA & CDDY), cistinuria, hipotiroidismo congénito con bocio (CHG) y mielopatía degenerativa (DM exón 2). Las condiciones afectan sistemas muy distintos (ocular, musculoesquelético, urinario, endocrinológico y neurológico), por lo que el panel es una herramienta de gestión global de la cría. La prueba molecular es complementaria —no sustitutiva— del examen ocular, ortopédico y tiroideo de cara a la selección reproductiva.
Diseases included in this pack
Hereditary Cataract (HSF4) (Recessive in the Staffordshire Bull Terrier and Boston Terrier; dominant/co-dominant in the Australian Shepherd (OMIA:001758-9615).)
Hereditary cataract associated with mutations in the HSF4 gene in three breeds: Staffordshire Bull Terrier, Boston Terrier and Australian Shepherd. It causes bilateral lens opacity, often of juvenile onset, progressing to blindness. The mutation behaves recessively in the Staffordshire Bull Terrier and Boston Terrie…
Chondrodysplasia (CDPA) and Chondrodystrophy (CDDY) (IVDD Risk) (CDPA: autosomal dominant semi-dominant (homozygotes with shorter legs). CDDY-IVDD: autosomal dominant with a dose-dependent effect (more copies, higher risk of IVDD).)
Combined test that evaluates two FGF4 retrogene insertions associated with skeletal phenotypes and with the risk of intervertebral disc herniation in the dog. The insertion on chromosome 18 (CDPA) determines the shortened limbs typical of many breeds; the insertion on chromosome 12 (CDDY) is associated with chondrod…
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…
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…
Congenital Hypothyroidism (CHG) French Bulldog (Autosomal recessive (pattern inferred from the TPO family and from the other congenital hypothyroidisms due to TPO).)
Congenital hypothyroidism with goitre due to dyshormonogenesis in the French Bulldog, caused by a splicing mutation of the TPO gene that abolishes thyroid peroxidase activity. It presents with cretinism, growth retardation, dysmorphic features and goitre. It is a case described in a single dog and its population fre…
Frequently asked questions
What does this pack include?
It includes 5 hereditary disease tests: Hereditary Cataract (HSF4), Chondrodysplasia (CDPA) and Chondrodystrophy (CDDY) (IVDD Risk), Bulldog cystinuria (French/English) - SLC3A1 haplotype, 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.
