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Description:The deficiency of sphingomyelinase causes Type I (or Type A or B) Niemann-Pick disease. This protocol uses a natural substrate, [14C]-sphingomyelin (the label is in the fatty acid component). The enzyme removes the fatty acid moiety. The activity is determined by counting after the unreacted substrate is removed by precipitation with bovine serum albumin. For Ashkenazic Jewish individuals, Niemann-Pick Disease Type A testing is also available through DNA analysis (see Niemann-Pick Disease Type A). Specimen Requirements:The assay is performed on white blood cells or cultured fibroblasts. For white blood cells, draw 7-10 ml in a yellow top (ACD) tube and ship to us on wet ice in an insulated container by overnight express. Sample must arrive at our location within 48 hrs. For fibroblasts, send two T25 flasks of confluent cells in an insulated container by overnight carrier. Normal Range:Skin Fibroblasts: 1.1-8.0
nmol/min/mg protein Turnaround Time: White Blood Cells: 2 weeks CPT Codes and Prices:Skin Fibroblast Culture: 82657, 84155, 88240,
88233 Shipping InformationForms:Test Codes:
Skin Fibroblast Culture: 4607 |