NPABZ - Overview: Niemann-Pick Disease, Types A and B, Full Gene Analysis

Test Catalog

Test Name

Test ID: NPABZ    
Niemann-Pick Disease, Types A and B, Full Gene Analysis

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

Confirmation of a diagnosis of Niemann-Pick disease type A or B 


Carrier screening in cases where there is a family history of Niemann-Pick disease type A or B, but disease-causing mutations have not been identified in an affected individual

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

Testing includes full gene sequencing of the SMPD1 gene.

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

Testing Algorithm Delineates situations 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.


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 and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

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

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

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


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

Niemann-Pick A-B Full Gene Analysis

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

Niemann Pick A
Niemann Pick B
Niemann Pick Disease (NPD)
Niemann Pick Disease Type A
Niemann Pick Disease Type B
Niemann Pick IA
Niemann Pick Type IA
Niemann-Pick A
Niemann-Pick B
Niemann-Pick Disease
Niemann-Pick Disease Type A
Niemann-Pick Disease Type B
Niemann-Pick IA
Niemann-Pick Type IA
NPD (Niemann-Pick Disease)
Sphingomyelin Lipidosis
Sphingomyelinase Deficiency