Test ID: NPCKM
Niemann-Pick Type C Disease, Known Mutation
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
Carrier testing of individuals for Niemann-Pick disease type C (NPC) when familial mutations have been previously identified
Diagnostic confirmation of NPC when familial mutations have been previously identified
Prenatal testing when 2 familial mutations have been previously identified in an affected family member
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Documentation of the specific familial mutations(s) must be provided with the specimen in order to perform this test.
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 |
| AFC | Amniotic Fluid Culture/Genetic Test | Yes | No |
| MCC | Maternal Cell Contamination, B | Yes | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
For prenatal specimens only: 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. For any prenatal specimen that is received, maternal cell contamination studies will be added.
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) followed by DNA sequencing and/or gene dosage analysis by multiplex ligation-dependent probe amplification (MLPA) of NPC1 and NPC2 genes is utilized to test for the presence of mutations previously identified in an affected family member.
(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
Niemann-Pick Type C (NPC)
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