Cane Corso Pack: canine multifocal retinopathy (CMR1), degenerative myelopathy (DM exon 2), dental-skeletal-retinal anomaly (DSRA), hyperuricosuria (HUU/SLC) and neuronal ceroid lipofuscinosis 1 (NCL1)
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Panel genético del Cane corso (italiano) que agrupa cinco condiciones hereditarias autosómicas recesivas descritas o validadas en la raza: la retinopatía multifocal canina 1 (CMR1, lesiones retinianas multifocales por BEST1), la mielopatía degenerativa (DM, variante del exón 2 de SOD1), la anomalía dental-esquelética-retiniana (DSRA, síndrome multisistémico por MIA3), la hiperuricosuria/hiperuricemia (HUU, defecto renal de SLC2A9 con riesgo de urolitos de urato) y la lipofuscinosis neuronal ceroide 1 (NCL1, enfermedad neurodegenerativa lisosomal por PPT1). Afecta a los sistemas ocular, neurológico, esquelético-dental y renal/urinario. Prueba complementaria, no sustitutiva, del examen clínico.
Diseases included in this pack
Canine Multifocal Retinopathy (CMR1/2/3) (Ask About Breeds) (Autosomal recessive (OMIA:001444-9615).)
Canine multifocal retinopathy 1 (CMR1) is a hereditary ocular disease caused by a mutation in BEST1. It produces multiple areas of retinal degeneration (raised subretinal lesions, with focal tapetal hyperreflectivity) that develop around 13 weeks of age and progress with age. It is usually of benign course and does…
Dental-Skeletal-Retinal Anomaly (DSRA) (Autosomal recessive (MIA3). Affected homozygotes show the phenotype; heterozygotes are asymptomatic carriers.)
Hereditary multisystemic syndrome described in the Cane Corso that combines dental anomalies (fragile or translucent teeth, hypoplasia or missing teeth), disproportionate skeletal growth and progressive retinal degeneration. It is caused by a splicing variant in the MIA3 gene and is inherited in an autosomal recessi…
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…
Neuronal ceroid lipofuscinosis 1 (NCL1) - Cane Corso (Autosomal recessive (PPT1). Affected homozygotes develop the disease; heterozygotes are asymptomatic carriers.)
Neuronal ceroid lipofuscinosis 1 (NCL1) is an inherited lysosomal storage disease caused by variants in PPT1, which encodes palmitoyl-protein thioesterase. It produces accumulation of autofluorescent material in neurons and progressive degeneration of the central nervous system. In the Cane Corso, a splicing variant…
Frequently asked questions
What does this pack include?
It includes 5 hereditary disease tests: Canine Multifocal Retinopathy (CMR1/2/3) (Ask About Breeds), Dental-Skeletal-Retinal Anomaly (DSRA), Hyperuricosuria (SLC), 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.
