Giant Schnauzer Pack: Progressive Retinal Atrophy (NECAP1-PRA), Progressive Retinal Atrophy (prcd-PRA), Dilated Cardiomyopathy (DCM), Hyperuricosuria (HUU/SLC), Degenerative Myelopathy (DM exon 2)

Panel multienfermedad del Schnauzer gigante que agrupa cinco pruebas moleculares: dos formas de atrofia progresiva de retina (NECAP1-PRA y prcd-PRA), cardiomiopatía dilatada (DCM por deleción de 22 pb en RBM20), hiperuricosuria (HUU, SLC2A9) y mielopatía degenerativa (DM, variante del exón 2 de SOD1). Combina afecciones oculares, cardíacas, urinarias y neurológicas. La prueba molecular es complementaria, no sustitutiva, del examen ocular anual y del seguimiento cardiológico en la selección reproductiva.

View full details →

Diseases included in this pack

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 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 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…

Dilated Cardiomyopathy (DCM) (Autosomal recessive (OMIA:002365-9615); the clinical risk is concentrated in homozygotes for the 22 bp deletion in RBM20)

Monogenic dilated cardiomyopathy described in the Standard Schnauzer and the Giant Schnauzer, associated with a homozygous 22 bp deletion in the RBM20 gene (splicing regulator). It produces dilation and systolic dysfunction of the left ventricle, with congestive heart failure and premature death in homozygotes.

NECAP1-PRA (Autosomal recessive)

Form of progressive retinal atrophy (PRA) of the Giant Schnauzer associated with a variant in the NECAP1 gene, which encodes a protein involved in endosomal trafficking of photoreceptors. It causes progressive photoreceptor degeneration with initial night blindness and progression to complete blindness. It is one of…

Frequently asked questions

What does this pack include?

It includes 5 hereditary disease tests: Hyperuricosuria (SLC), Canine Degenerative Myelopathy exon 2 (All Breeds), Canine Progressive Retinal Atrophy (prcd-PRA), Dilated Cardiomyopathy (DCM)…. 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.