Rottweiler Pack: Leukoencephalomyelopathy (LEMP), Degenerative Myelopathy (DM exon 2), Neuroaxonal Dystrophy (NAD), X-Linked Myopathy (XL-MTM), Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP), Hair Length I (Short Hair/Long Hair)

Panel multienfermedad para el Rottweiler que agrupa seis pruebas moleculares: leucoencefalopatía/leucoencefalomielopatía (LEMP, NAPEPLD), mielopatía degenerativa (DM exón 2, SOD1), distrofia neuroaxonal (NAD, VPS11), miopatía miotubular ligada al cromosoma X (XL-MTM, MTM1), parálisis laríngea juvenil y polineuropatía / vacuolización neuronal y degeneración espinocerebelosa (JLPP/NVSD, RAB3GAP1) y longitud del pelo I (FGF5). Combina afecciones neuromusculares y neurodegenerativas graves con un marcador de capa. La prueba molecular es complementaria del examen clínico y no sustituye al seguimiento neurológico.

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Diseases included in this pack

Leukoencephalomyelopathy (LEMP) (Autosomal recessive (OMIA:001788-9615).)

Neurodegenerative disease characterised by spongiform degeneration of the white matter of the central nervous system, with progressive motor signs of juvenile onset. It is caused by variants in NAPEPLD and has been described in the Leonberger and the Rottweiler; the same Rottweiler variant has also been found in the…

X-Linked Myopathy (XL-MTM) (X-linked recessive (OMIA:001508-9615).)

Severe congenital myopathy of the skeletal muscles due to a defect of myotubularin 1, a phosphatase involved in the maturation of muscle fibres. It appears in males as severe neonatal hypotonia («floppy puppy») with progressive respiratory weakness and early death. The canine form of the Labrador Retriever and the R…

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…

Neuroaxonal Dystrophy (NAD) Rottweiler (Autosomal recessive (OMIA; Lucot 2018). Affected homozygotes; asymptomatic carrier heterozygotes.)

A recessive neurodegenerative disease of the Rottweiler with onset in the young adult, with axonal spheroids mainly affecting sensory terminals of the central nervous system. It is associated with a missense mutation in the VPS11 gene. A test complementary to, not a substitute for, clinical examination.

Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP) (Autosomal recessive (OMIA:001970-9615); affected dogs are homozygous for c.743delC)

Inherited neurodegenerative disease of juvenile onset caused by biallelic variants of RAB3GAP1, a membrane trafficking gene. In the Rottweiler it presents as neuronal vacuolation and spinocerebellar degeneration (NVSD) and in the Black Russian Terrier as polyneuropathy with ocular abnormalities and neuronal vacuolat…

Longitud y tipo de pelo (largo/corto; rizado/liso), SIN pelo duro y barbas (FGF5 (long hair): autosomal recessive (OMIA:000439-9615). KRT71 (curly): autosomal inheritance (OMIA:000245-9615).)

Panel of canine coat traits that reports hair length (FGF5 gene) and curly or straight type (KRT71 gene). It is not a disease test: it describes the likely phenotype and helps predict litters. The long-hair allele of FGF5 is recessive; the KRT71 genotype contributes to the curly coat. The panel does not include the…

Frequently asked questions

What does this pack include?

It includes 6 hereditary disease tests: Leukoencephalomyelopathy (LEMP), X-Linked Myopathy (XL-MTM), Canine Degenerative Myelopathy exon 2 (All Breeds), Neuroaxonal Dystrophy (NAD) Rottweiler…. 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.