Australian Cattle Dog Pack: Progressive Retinal Atrophy (prcd-PRA), Progressive Retinal Atrophy (rcd4-PRA), Cystinuria, Neuronal Ceroid Lipofuscinosis (NCL), Primary Lens Luxation (PLL), Degenerative Myelopathy (DM exon 2)
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Panel genético multienfermedad dirigido al Boyero australiano que agrupa seis pruebas moleculares de afecciones hereditarias descritas en la raza: dos formas de atrofia progresiva de retina (prcd-PRA y rcd4-PRA), cistinuria, lipofuscinosis neuronal ceroide (NCL), luxación primaria de lente (PLL) y mielopatía degenerativa (DM exón 2). Cada prueba informa del estatus libre/portador/afecto para la variante correspondiente y permite planificar cruces evitando animales enfermos. El panel no sustituye al examen ocular ni al seguimiento clínico: varias afecciones son tardías o de penetrancia variable, y la prueba molecular es solo una pieza del manejo reproductivo.
Diseases included in this pack
Australian Cattle Dog cystinuria - SLC3A1 deletion (Autosomal dominant (type II-A, not androgen-dependent): both hetero- and homozygotes excrete excess cystine.)
Genetic test for type II-A cystinuria in the Australian Cattle Dog: it detects the SLC3A1 deletion c.1098_1103del (p.T367_T368del), dominantly inherited, associated with a defect in renal cystine reabsorption with urolithiasis and risk of urinary obstruction. The molecular test is complementary —not substitutive— to…
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…
Primary Lens Luxation (PLL) (Autosomal recessive (OMIA:000588-9615; Farias et al. 2010).)
Progressive weakening of the zonules of Zinn that causes displacement of the lens. It is a hereditary, non-inflammatory ocular disease, distinct from luxations secondary to cataract, uveitis, previous glaucoma or trauma. When the lens moves into the anterior chamber it can trigger a painful acute glaucoma and rapid…
Canine rcd4-PRA (Autosomal recessive)
Progressive Retinal Atrophy type rcd4 (rcd4-PRA) is a form of progressive retinal degeneration described in several dog breeds. It involves the gradual loss of photoreceptors (cones and rods), with initial night blindness and progression towards marked visual loss. It is distinguished from other PRAs by its later on…
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…
Cerebellar Ataxia of American Staffordshire Terrier (Autosomal recessive)
Neuronal Ceroid Lipofuscinosis type 5 (NCL5) is a progressive lysosomal neurodegenerative disease affecting Australian Cattle Dogs and Border Collies. It is characterised by abnormal accumulation of lipofuscin (lipid waste pigment) in the neurons of the central and peripheral nervous system.nnThe disease produces…
Frequently asked questions
What does this pack include?
It includes 6 hereditary disease tests: Australian Cattle Dog cystinuria - SLC3A1 deletion, Canine Degenerative Myelopathy exon 2 (All Breeds), Primary Lens Luxation (PLL), Canine rcd4-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.
