Test ID: NPD
Niemann-Pick Disease, Types A and B, Mutation Analysis
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
Useful For Suggests clinical disorders or settings where the test may be helpful
Carrier testing for individuals of Ashkenazi Jewish ancestry
Prenatal diagnosis for at-risk pregnancies
Confirmation of clinical diagnosis in individuals of Ashkenazi Jewish ancestry
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Mutations tested for include L302P, R496L, fsP330 (NPA), and deltaR608 (NPB).
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 | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| FBC | 80333 | Fibroblast Culture for Genetic Test | Yes | No |
| AFC | 80334 | Amniotic Fluid Culture/Genetic Test | Yes | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
Note: This testing algorithm only applies to prenatal testing.
If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) 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
NPD/85322: The multiplex polymerase chain reaction (PCR)-based assay from TM Bioscience is used to test for mutations associated with Niemann-Pick disease types A and B (L302P, R496L, fsP330, and delta R608).
FBC/80333, AFC/80334: 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-Pick disease, Type B
NPD type A
NPD type B
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