Test Catalog

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

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 variants 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
FIBRFibroblast CultureYesNo
CRYOBCryopreserve for Biochem StudiesNoNo

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

If a skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be performed at an additional charge.


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) followed by DNA Sequencing

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


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

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