/ 0
Store

Find Products

Niemann-Pick C1 Disease, Variant 1 (Feline)

$50

(ONLINE PRICE)

ADD TO CART

Test Overview:

Genetic testing for the NPC1 Variant 1 mutation is essential for breeding cats to identify carriers and affected individuals. Cats with two copies of the mutation (affected) should not be bred, as they will produce affected kittens. Cats with one copy of the mutation (carriers) should only be bred to cats that are clear (no mutation) to prevent affected kittens. Avoid breeding two carriers together, which has a 25% chance of producing affected kittens. Genetic testing results should be shared transparently with breeders and buyers to make informed decisions. Gradual eradication of this mutation from breeding populations is possible through responsible selective breeding.

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),
##parent-placeholder-19bd1503d9bad449304cc6b4e977b74bac6cc771##