Use

The test is useful for investigating the possible diagnosis of Niemann-Pick disease types A and B. It is particularly applicable for diagnostic testing in patients with decreased acid sphingomyelinase activity detected on newborn screening or clinical signs and symptoms suspicious for Niemann-Pick type A or B. Niemann-Pick disease types A and B result from a deficiency in the enzyme sphingomyelinase, causing storage issues with sphingomyelin and cholesterol in several organs. Accurate diagnosis can guide further biochemical testing and molecular genetic assessments.