Description:

This assay measures the activity of the enzyme, a-fucosidase, using a synthetic substrate, 4-methylumbelliferyl-a-L-fucoside. Upon cleavage by the enzyme, 4-methylumbelliferone is released and can be quantified in a fluorimeter. The deficiency of the enzyme causes the clinical disease, fucosidosis.

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: 1.01-4.84 nmoles/min/mg protein
White Blood Cells: 450-2500 pmoles/min/mg protein

Turnaround Time:

White Blood Cells: 2 weeks
Skin fibroblasts assays are growth dependent.

CPT Codes and Prices:

Skin Fibroblast Culture: 82657, 84155, 88240, 88235
White Blood Cells: 82657, 84155

Shipping Information

Forms:

>> Biochemical Requisition

Test Codes:

Skin Fibroblast Culture: 4512
White Blood Cells:4513

Medical Genetics Laboratories
Baylor College of Medicine · Houston, TX 77030
Phone: 1-800-411-GENE · Fax: 713-798-6584
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