Landseer Pack: Cystinuria, Muscular Dystrophy (MD), D-locus d1 (Dilution), Degenerative Myelopathy (DM exon 2), Thrombopathy

Panel genético multienfermedad para el Landseer que agrupa cinco pruebas moleculares: cistinuria, distrofia muscular (MD), D-locus d1 (dilución de capa), mielopatía degenerativa (DM exón 2) y trombopatía. El panel combina afecciones urinaria, neuromuscular, hemostática y de marcador de capa. La prueba molecular es complementaria del estudio hemostático, neuromuscular y urológico en la selección reproductiva.

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Diseases included in this pack

Canine Cystinuria (Autosomal recessive (type I-A): affects males and females equally; it is not androgen-dependent.)

Genetic test for type I-A cystinuria (autosomal recessive) in dogs: it detects the nonsense variant SLC3A1 c.586C>T (p.Arg196*) described in the Newfoundland and Landseer. Cystinuria is a defect in tubular reabsorption of cystine that produces crystalluria and stones, with a risk of urinary obstruction. The molecula…

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…

Thrombopathia (American Eskimo Dog, Basset Hound and Landseer) (Autosomal recessive (OMIA:002433-9615))

Hereditary thrombopathy due to CalDAG-GEFI (RASGRP2) deficiency, with markedly altered platelet aggregation. Three breed-specific mutations have been described: American Eskimo Dog (duplication), Basset Hound (three-base deletion) and Landseer (nonsense mutation). Affected dogs show mucocutaneous bleeding with norma…

Ullrich Muscular Dystrophy (Landseer) (Autosomal recessive)

Ullrich-type muscular dystrophy is a severe myopathy caused by loss of function of collagen VI, an extracellular matrix protein. In the Landseer it is due to a nonsense variant in the COL6A1 gene and is characterized by progressive muscle weakness and atrophy of early onset. It is inherited in an autosomal recessive…

Frequently asked questions

What does this pack include?

It includes 5 hereditary disease tests: Canine Cystinuria, D-locus d1 (dilution) MLPH all breeds, Canine Degenerative Myelopathy exon 2 (All Breeds), Thrombopathia (American Eskimo Dog, Basset Hound and Landseer)…. 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.