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Test ID: ASMW    
Acid Sphingomyelinase, Leukocytes

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

Investigation of possible diagnosis of Niemann-Pick disease types A and B

 

This test is not recommended for carrier detection because of the wide range of enzymatic activities observed in carriers and noncarriers.

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

This test provides diagnostic testing for patients with decreased acid sphingomyelinase activity on newborn screen or with clinical signs and symptoms suspicious for Niemann-Pick type A or B.

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

The following are available in Special Instructions:

-Newborn Screen Follow-up for Niemann-Pick Type A and B

-Newborn Screening Act Sheet Niemann-Pick A/B: Decreased Acid Sphingomyelinase.

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

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

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

Acid Sphingomyelinase, Leukocytes

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

Acid Sphingomyelinase Deficiency
ASM Deficiency
Niemann-Pick Disease
Niemann-Pick type A
Niemann-Pick type B
NPD
Sphingomyelinase Deficiency