Test ID: NPCMS
Niemann-Pick Type C, Full Gene Analysis
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Second-tier test for confirming a biochemical diagnosis of Niemann-Pick type C (NPC)
Carrier testing of individuals with a family history of NPC but an affected individual is not available for testing or disease-causing mutations have not been identified
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Testing includes full gene sequencing of the NPC1 and NPC2 genes, including analysis for large deletions and duplications.
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FBC | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
Polymerase chain reaction (PCR) amplification followed by DNA sequencing is utilized to test for the presence of a mutation in the NPC1 and NPC2 genes and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)
FBC/80333: Cell Culture
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Niemann
Niemann-Pick Disease (NPD)
NPC1
NPC2
NPD (Niemann-Pick Disease)
Niemann-Pick Type C (NPC)
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