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Neuronal Ceroid Lipofuscinosis 7, Variant 2 (Feline)

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Test Overview:

NCL7 Variant 2 is an inherited autosomal recessive lysosomal storage disease caused by mutations in the MFSD8 gene, leading to progressive neurodegeneration in affected cats. Genetic testing for the variant is essential in breeds or lines at risk to identify carriers and affected cats. Cats with two copies of the mutation (affected) should never be bred to prevent producing affected kittens. Cats with one copy of the mutation (carriers) are healthy but can pass the mutation to offspring. Carriers should be bred only to cats that test clear (no mutation). Avoid breeding two carriers together to avoid a 25% risk of affected kittens. Responsible breeders should share genetic testing results openly and make informed breeding decisions, balancing mutation elimination with maintaining genetic diversity. These practices help prevent the spread of NCL7 Variant 2 and improve breed health and cat welfare.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

MFSD8

Variant Detected:

c.846 deletion

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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