Niemann-Pick disease Type C Sequencing

Niemann-Pick type C 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 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. The NPC2 gene encodes a protein that binds and transports cholesterol. It has been shown to closely interact with NPC1.

Approximately 95% of Niemann-Pick Type C cases are caused by genetic mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene, referred to as type C2. 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. The NPC1 gene is located on chromosome 18 (18q11-q12) while NPC2 gene, which has been mapped to chromosome 14 (14q24.3).

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 code 272.7

Test Requisition: Sequencing Requisition

CPT Code: 81479 Cost: $1623.00 each test. If sequencing both genes total cost $3203.00.

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