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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

83118

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

Conditional

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 IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo
AFCAmniotic Fluid Culture/Genetic TestYesNo
MCCMaternal Cell Contamination, BYesNo

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

NPC Known Mutation

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

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