Description:The deficiency of b-D-Glucosidase results in Gaucher disease. This assay utilizes the synthetic substrate, 4-methylumbelliferyl-b-D-glucoside, which is hydrolyzed to release 4-methylumbelliferone. Activity is determined by measuring the quantity of 4-methylumbelliferone formed using the fluorimeter. For Ashkenazi Jewish individuals, DNA analysis is also available (see Gaucher disease). Specimen Requirements:The assay is performed on white blood cells or cultured skin 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: 3.0-10.0
nmol/min/mg protein Turnaround Time:2-10 days CPT Codes and Prices:Skin Fibroblast Culture: 82657, 84155, 88240, 88233 Shipping InformationForms:Test Codes:
Skin Fibroblast Culture: 4553 |