Niemann-Pick disease type C1 / NPC1 (2 variants) - Cat

What does this test analyse?

This DNA analysis examines two variants in the feline NPC1 gene: c.2864G>C and c.1322A>C. The disorder is known as Niemann-Pick disease type C1, Niemann-Pick C, NPC1, NP-C and a lysosomal storage disease.

What does the disorder mean?

NPC1 is required for normal transport of cholesterol and other lipid substances inside cells. Affected cats accumulate lipid-like material in lysosomes, placing a major burden on the nervous system, liver and other organs. Clinical signs can include poor coordination, tremors, ataxia, seizures, behavioural changes, liver abnormalities, weight loss, poor muscle tone and difficulty eating or swallowing.

• Clear: no tested variant copy was detected for the relevant subanalysis.
• Carrier: one copy of an NPC1 variant; the cat can pass this variant on.
• Genetically affected result: two relevant NPC1 variant copies cause Niemann-Pick disease type C1.

Practical value of this test

Because the disorder follows autosomal recessive inheritance, carrier detection is important for breeding plans. This panel checks two known NPC1 variants at the same time, helps choose matings more accurately and greatly lowers the risk of kittens with this severe neurovisceral storage disease.