Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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.
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.
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.
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)