Niemann-Pick Disease C1 – All Breeds (2 variants)
Code: K334
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Short description
Niemann-Pick C disease is a storage disorder which affects the transport of cholesterol.
General Information
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.
Included tests
K600 — Niemann-Pick Disease C1 – All Breeds 1
K311 — Niemann-Pick Disease C1 – All Breeds 2
Specifications
| Breeds | All Breeds |
|---|---|
| Organ | Multiple systems |
| Specimen | Copan eNAT swab, Blood EDTA, Blood Heparin, Semen, Tissue |
References
Pubmed ID:
Omia ID:
Turnaround information
- 15 working days