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Neuronal Ceroid Lipofuscinosis 7, Variant 1 (Feline)

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Test Overview:

Genetic testing for MFSD8 mutations related to NCL7 is essential for breeding cats, especially in domestic shorthairs and identified affected breeds. Cats with two copies of the mutation (affected) should not be bred due to severe disease manifestation. Cats with one copy of the mutation (carriers) do not show clinical signs but can pass the mutation on. Breeding carriers only with cats that test clear (no mutation) avoids producing affected offspring. Avoid breeding two carriers to reduce risk of producing 25% affected kittens per litter. Responsible breeders should share genetic test results and make informed mating decisions to maintain breed health and diversity.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

MFSD8

Variant Detected:

c.19G>C and c.780delT

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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