|Sphingomyelinase Enzyme Assay
||This test provides enzymatic analysis of Sphingomyelinase for Confirmation of Clinical Diagnosis of Niemann-Pick type A and B.
This test can also be performed on Skin Fibroblast Culture (#4607).
Results from this test are not useful for Carrier Testing. Please note, carriers may have Sphingomyelinase levels in the normal range.
The Ashkenazic Mutation Panel (#6047) is also available for Niemann-Pick Disease Type A testing. Enzyme Analysis and/or the Ashkenazic Mutation Panel (#6047) are not useful for the diagnosis of Niemann-Pick Disease Type C. Sequence Analysis for NPC1 (#6555) and NPC2 (#6560) are available for Nieman-Pick Disease Type C testing.
|References Values or Ranges:
White Blood Cells: 30-120 pmol/min/mg protein