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Niemann-Pick C2 Disease (Feline)

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Test Overview:

Genetic testing for NPC2 mutations (such as c.376G>A) should be performed in breeding cats, especially in Siamese and known affected lines. Cats homozygous for pathogenic NPC2 mutations (affected) must not be bred. Cats heterozygous for the mutation (carriers) should be bred only to clear cats (no mutation) to avoid producing affected kittens. Avoid breeding two carriers together, which risks producing affected offspring. Responsible sharing and disclosure of genetic testing results among breeders helps prevent the spread of NPC2 disease.

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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