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Niemann-Pick Disease Type C


Niemann-Pick type C (NPC) is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann-Pick Type C strikes an estimated 1:150,000 people. The clinical manifestations of types Niemann Pick Type C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes. Four types of Niemann-Pick disease have been classified: the classic infantile form type A, the visceral form type B, the subacute or juvenile form type C, and the Nova Scotian variant type D. We provide sequencing analysis for the genes listed below that are associated with NPC.

Type OMIM Gene Description

Type C1

Type D (Nova Scotian type)

257220 NPC1 The NPC1 gene encodes a protein that is located in membranes inside the cell and is involved in the movement of cholesterol and lipids within cells. A deficiency of this protein leads to the abnormal build up of lipids and cholesterol within cell membranes. 95% of cases caused by mutation in this gene.
Type C2 607625 NPC2

The NPC2 gene encodes a protein that binds and transports cholesterol. It has been shown to closely interact with NPC1. 5% of cases associated with mutation of this gene.


Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-10 code E75.249

Test Requisition: Sequencing Requisition

NPC1 CPT Code: 81406 Cost: $1100.00

NPC2 CPT Code: 81404 Cost: $1100.00

Panel CPT Codes: 81406, 81404 Cost: $2200.00

Turn-around-time: 5-6 weeks for each test

Specimen Requirements

Shipping Information


1. Mellon SH, Gong W, Schonemann MD (March 2008). "Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C disease". Brain Research Reviews 57 (2): 410–20. DOI:10.1016/j.brainresrev.2007.05.012. PMC 2323675. PMID 17629950.

2. Zhang JR, Coleman T, Langmade SJ, et al. (June 2008). "Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking". The Journal of Clinical Investigation 118 (6): 2281–90. DOI:10.1172/JCI32561. PMC 2381744. PMID 18483620.

3. Bjurulf B, Spetalen S, Erichsen A, Vanier MT, Strøm EH, Strømme P (August 2008). "Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue". Medical science monitor : international medical journal of experimental and clinical research 14 (8): CS71–5. PMID 18668002.

4. Liou HL, Dixit SS, Xu S, Tint GS, Stock AM, Lobel P (December 2006). "NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols". The Journal of Biological Chemistry 281 (48): 36710–23. DOI:10.1074/jbc.M608743200.PMID 17018531..

5. Infante RE, Wang ML, Radhakrishnan A, Kwon HJ, Brown MS, Goldstein JL (October 2008). "NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes". Proceedings of the National Academy of Sciences of the United States of America 105 (40): 15287–92. DOI:10.1073/pnas.0807328105. PMC 2563079. PMID 18772377.

6. Subramanian K, Balch WE (October 2008). "NPC1/NPC2 function as a tag team duo to mobilize cholesterol". Proceedings of the National Academy of Sciences of the United States of America 105 (40): 15223–4. DOI:10.1073/pnas.0808256105. PMC 2563125. PMID 18832164.





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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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