Continental Toy Spaniel Pack: Progressive Retinal Atrophy (pap-PRA1), Factor VII Deficiency (F7), Neuroaxonal Dystrophy (NAD), Degenerative Myelopathy (DM exon 2), von Willebrand Disease Type 1 (vWD-1)

Panel genético multienfermedad para el Papillón / Continental toy spaniel que reúne cinco pruebas moleculares: atrofia progresiva de retina pap-PRA1, deficiencia del factor VII (F7), distrofia neuroaxonal (NAD), mielopatía degenerativa (DM exón 2) y enfermedad de von Willebrand tipo 1 (vWD-1). Cada condición tiene base molecular y herencia propia. El panel es complementario del examen ocular, hemocoagulativo y neurológico en la selección reproductiva.

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Diseases included in this pack

pap-PRA1 (Autosomal recessive (described in Papillon pedigrees).)

Molecular test for CNGB1-associated progressive retinal atrophy (pap-PRA1) of the Papillon, a late-onset autosomal recessive hereditary retinal degeneration leading to progressive visual loss. It affects rod photoreceptors and progresses slowly, with vision relatively preserved for a long time. The test reports clea…

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…

Neuroaxonal Dystrophy (NAD) Papillon (Autosomal recessive.)

Neuroaxonal dystrophy (NAD) in the Papillon is an autosomal recessive neurodegenerative disease with axonal degeneration and spheroid formation in the central nervous system, caused by a missense variant in PLA2G6. It begins in young puppies with intention tremor and progresses to cerebellar ataxia, tetraplegia, bli…

von Willebrand Disease Type 1 (Autosomal dominant with incomplete penetrance (classic Doberman form, VWF c.7437G>A))

Von Willebrand disease (vWD) type 1 is an inherited coagulopathy caused by a quantitative deficiency of von Willebrand factor (vWF), a protein required for platelet adhesion to damaged endothelium. The result is a tendency to excessive bleeding, especially from mucous membranes (gums, nose, bladder, digestive tract)…

Factor VII Deficiency (F7) (Autosomal recessive (OMIA:000361-9615).)

Factor VII deficiency is an inherited coagulopathy of the extrinsic coagulation pathway. In the Papillon and the Phalène it behaves as a mild to moderate disorder, often detected as an incidental finding in a blood panel with prolonged prothrombin time (PT), and rarely with severe bleeding. The DNA test reports stat…

Frequently asked questions

What does this pack include?

It includes 5 hereditary disease tests: pap-PRA1, Canine Degenerative Myelopathy exon 2 (All Breeds), Neuroaxonal Dystrophy (NAD) Papillon, von Willebrand Disease Type 1…. 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.