Niemann-Pick Disease C1 – All Breeds (2 variants)

Niemann-Pick C disease is a storage disorder which affects the transport of cholesterol. This metabolic disorder allows a certain kind of fat, sphingomyelin, of to accumulate in cells. Sphingomyelin, accumulates in lysosomes (membrane-bound organelles in cells). The lysosomes are cell compartiments, responsible for the digestion of biomolecules.

Cats shows signs referrable to the cerebellum.

This package tests for two different mutations in the NPC gene.