Test Catalog

Test ID: NPABP    
Niemann-Pick Disease, Types A and B, Mutation Analysis

Useful For Suggests clinical disorders or settings where the test may be helpful

Carrier testing of Niemann-Pick disease types A and B for individuals of Ashkenazi Jewish ancestry

 

Prenatal diagnosis of Niemann-Pick disease types A and B for at-risk pregnancies

 

Confirmation of suspected clinical diagnosis of Niemann-Pick disease types A and B in individuals of Ashkenazi Jewish ancestry

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Mutations tested for include L302P, R496L, fsP330 (NPA), and deltaR608 (NPB).

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal sample that is received, maternal cell contamination studies will be added.

 

See Newborn Screen Follow-up for Niemann Pick Type A and B in Special Instructions.

 

For more information, see Newborn Screening Act Sheet Niemann-Pick A/B Disease: Decreased Acid Sphingomyelinase in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Analysis

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Niemann-Pick Disease, Types A and B

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

Niemann-Pick disease, Type A
Niemann-Pick disease, Type B
NPD type A
NPD type B
NPD
SMPD1