NPCZ - Overview: Niemann-Pick Type C Disease, Full Gene Analysis

Test Catalog

Test Name

Test ID: NPCZ    
Niemann-Pick Type C Disease, Full Gene Analysis

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 when 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 IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo

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/Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

NPC1/NPC2 Genes, Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

N-P
Niemann
Niemann-Pick Disease (NPD)
Niemann-Pick Type C (NPC)
NPC1
NPC2
NPD (Niemann-Pick Disease)
NPCMS