Spanish Water Dog Genetic Pack

Tests included in this pack (7)

• Brachyury, genetic test
• Hyperuricosuria (SLC)
• Canine Progressive Retinal Atrophy (prcd-PRA)
• Canine Degenerative Myelopathy exon 2 (all breeds)
• Congenital Hypothyroidism (CHG) Spanish Water Dog
• Neuroaxonal Dystrophy (NAD) Spanish Water Dog
• Spanish Water Dog early-onset PRA (PDE6B)

Each test includes full analysis and a detailed report. Click on the test to view its information sheet.

Diseases included in this pack

Brachyuria, Genetic Test (Autosomal dominant with embryonic lethality in homozygosity (T/T not viable).)

Hereditary trait (not a disease) that determines the natural short tail through a mutation in the T gene (brachyury). The short tail is a morphological character; the health interest lies in its inheritance: T/T homozygotes are not viable (embryonic lethality), so mating two short-tailed dogs reduces litter size. It…

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.

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…

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) Spanish Water Dog (Autosomal recessive (TPO insertion segregating with the disease in the breed).)

Congenital hypothyroidism with goitre in the Spanish Water Dog: a defect of thyroid hormone synthesis (dyshormonogenesis) due to absence of thyroperoxidase (TPO) activity. Affected puppies show growth retardation, sparse coat, lethargy and cold intolerance, with low thyroid hormones (T4, T3). The molecular defect is…

Neuroaxonal Dystrophy (NAD) Spanish Water Dog (Autosomal recessive (OMIA:001975-9615).)

Neuroaxonal dystrophy (NAD) is an inherited neurodegenerative disease described in the Spanish Water Dog. It is characterized by the formation of axonal spheroids (accumulation of autophagosomes) in the grey matter of the hemispheres, cerebellum, brainstem and spinal sensory pathways, with progressive degeneration a…

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…

Frequently asked questions

What does this pack include?

It includes 7 hereditary disease tests: Brachyuria, Genetic Test, Hyperuricosuria (SLC), Canine Progressive Retinal Atrophy (prcd-PRA), 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.