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Niemann-Pick C1 Disease, Variant 1 (Feline)

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Test Overview:

Lysosomal storage disease that is characterised by the impaired transport and metabolism of un-esterified cholesterol and sphingomyelin. Accumulation of these in the lysosomes cause progressive neurological dysfunction. This disease is characterised by body tremors, head tremors, poor movement and coordination and are usually evident from 8 to 12 weeks of age. Other signs can include enlarged liver and spleen, low birth weight and premature death (around 8 to 10 months of age).

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

NPC1

Variant Detected:

missense mutations c.2864G>C or c.1322A>C

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a cat is a carrier of Niemann-Pick C1 Disease, Variant 1.

Research Citation(s):

Mauler, D.A., Gandolfi, B., Reinero, C.R., O'Brien, D.P., Spooner, J.L., Lyons, L.A. : Precision medicine in cats: Novel Niemann-Pick type C1 diagnosed by whole-genome sequencing. J Vet Intern Med 31:539-544, 2017. Pubmed reference: 28233346.

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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