Portuguese Water Dog Pack: Early-Onset Progressive Retinal Atrophy (eo-PRA), Progressive Retinal Atrophy (prcd-PRA), Gangliosidosis (GM1), Improper Coat

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Dog · Perro de agua portugués

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Panel multienfermedad y de manto dirigido al Perro de aguas portugués que agrupa cuatro pruebas de afecciones hereditarias descritas en la raza: dos formas de atrofia progresiva de retina (eo-PRA y prcd-PRA), gangliosidosis GM1 e improper coat (ausencia del manto típico). El panel permite gestionar afecciones oculares y neurometabólicas y predecir el fenotipo de manto. La GM1 es una enfermedad neurometabólica grave de evolución progresiva.

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Diseases included in this pack

Gangliosidosis (GM1) (Autosomal recessive)

Lysosomal storage disease due to acid beta-galactosidase deficiency, which causes accumulation of GM1 gangliosides in the central nervous system and in various organs. It produces a progressive neurodegeneration of early onset with ataxia, cerebellar signs and weakness, and is lethal in the first months/years of lif…

eo-PRA (Autosomal recessive. In the Portuguese Water Dog the pedigree analysis suggested autosomal recessive inheritance and obligate heterozygous carriers were identified.)

Early-onset progressive retinal atrophy (PRA) described in the Portuguese Water Dog, with progressive degeneration of photoreceptors leading to blindness. It is a form molecularly distinct from the late-onset prcd-PRA (PRCD gene) that also affects this breed. The Schapendoes presents another variant of the same CCDC…

Furnishing / wiry coat (RSPO2) (Autosomal trait with variable expression (not a disease); associated with the RSPO2 variant)

A coat variant associated with 'furnishings' (moustache and eyebrows) and facial wire hair in the dog, caused by a 167 bp insertion in the 3'UTR region of the RSPO2 gene. It is not a disease, but a morphological trait with variable expression. The test reports the genotype for the variant.

Canine Progressive Retinal Atrophy (prcd-PRA) (Autosomal recessive)

Inherited degeneration of the retinal photoreceptors. It begins by affecting the rods (night blindness, difficulty in low light) and progresses toward total vision loss in the medium to long term. It is the most common form of progressive retinal atrophy in dogs and is painless, so it is usually detected late, when…

Frequently asked questions

What does this pack include?

It includes 4 hereditary disease tests: Gangliosidosis (GM1), eo-PRA, Furnishing / wiry coat (RSPO2), Canine Progressive Retinal Atrophy (prcd-PRA). 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.