American Staffordshire Terrier Pack: Progressive Retinal Atrophy (crd1-PRA), Neuronal Ceroid Lipofuscinosis (NCL), Degenerative Myelopathy (DM exon 2), D-locus d1 (Dilution)

Panel genético del American Staffordshire terrier que combina cuatro variantes recesivas: atrofia progresiva de retina tipo crd1 (crd1-PRA, degeneración precoz de fotorreceptores por PDE6B), lipofuscinosis neuronal ceroide de inicio adulto (NCL por ARSG), mielopatía degenerativa (DM, variante del exón 2 de SOD1) y el locus de dilución del color del pelo D-locus d1 (cambia el eumelanina a diluido azul/leonado en homocigosis). Las tres primeras son enfermedades; la cuarta es una característica de capa.

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Diseases included in this pack

D-locus d1 (dilution) MLPH all breeds (Autosomal recessive (D locus). The diluted coat phenotype requires homozygosity of the recessive allele d (d/d); heterozygotes D/d are not diluted.)

Colour dilution associated with the D locus is caused by variants in the MLPH gene (melanophilin). The recessive allele d gives rise to lightened coats (blue, grey, lilac, etc.) and, in a subset of affected dogs, predisposes to colour dilution alopecia (CDA), a dermatosis with hair loss and folliculitis. The effect…

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…

crd1-PRA (Autosomal recessive)

Form of progressive retinal atrophy due to cone-rod dystrophy (crd1) described in the American Staffordshire Terrier. Its molecular basis is confirmed: an in-frame deletion of three base pairs in the PDE6B gene, which causes early and rapidly progressive degeneration of cones and rods and progresses to blindness.

Neuronal Ceroid Lipofuscinosis (NCL) Formerly American Staffordshire Cerebellar Ataxia (Autosomal recessive)

Adult-onset neurodegenerative lysosomal storage disease of the American Staffordshire terrier, historically known as the breed's 'old cerebellar ataxia'. It produces accumulation of autofluorescent lipofuscin material in neurons and progressive degeneration of the central nervous system. It is inherited in an autoso…

Frequently asked questions

What does this pack include?

It includes 4 hereditary disease tests: D-locus d1 (dilution) MLPH all breeds, Canine Degenerative Myelopathy exon 2 (All Breeds), crd1-PRA, Neuronal Ceroid Lipofuscinosis (NCL) Formerly American Staffordshire Cerebellar Ataxia. 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.