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Niemann-Pick C1 Disease, Variant 2 (Feline)

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Test Overview:

Genetic testing for the NPC1 Variant 2 mutation is crucial for breeding cats in affected populations to identify carriers and affected cats. Cats with two copies of the mutation (affected) must not be bred to prevent affected offspring. Cats with one copy of the mutation (carriers) should be bred only with cats that are clear of the mutation to reduce the risk of affected kittens. Avoid mating two carriers, which leads to a 25% chance of affected kittens. Share genetic test results among breeders and owners to promote responsible breeding. Selective breeding can help reduce the mutation’s frequency while maintaining breed diversity.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

NPC2

Variant Detected:

c.82+5G>A

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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