Acid Sphingomyelinase, Leukocytes | PULSE CLINIC - Asia's Leading Sexual Healthcare Network.
Acid Sphingomyelinase, Leukocytes

Acid Sphingomyelinase, Leukocytes

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Overview

The Acid Sphingomyelinase test on leukocytes is utilized to explore potential diagnoses for Niemann-Pick disease types A and B. It is not recommended for carrier detection due to the variability of enzymatic activities observed in carriers and noncarriers. This test offers diagnostic assessment for individuals with reduced acid sphingomyelinase activity on newborn screening or clinical signs and symptoms suggestive of Niemann-Pick type A or B.

 

The method employed is Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS). Specimens required are Whole Blood ACD, preferably collected in a yellow top (ACD solution B) tube with a volume of 6 mL. Collection should occur from Monday through Thursday, excluding the day before a holiday, and specimens should be refrigerated and arrive within 6 days of collection for optimal isolation of leukocytes. Gross hemolysis is a criterion for rejection, and specimen stability varies based on storage conditions.

 


 

WHAT IS IT USED FOR?

Exploration of potential diagnoses for Niemann-Pick disease types A and B.

This test is discouraged for carrier detection due to the broad spectrum of enzymatic activities noted in carriers and noncarriers.

 

GENETICS TEST INFORMATION

This test offers diagnostic assessment for individuals exhibiting reduced acid sphingomyelinase activity on newborn screening or displaying clinical signs and symptoms suggestive of Niemann-Pick type A or B.

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