Description:

Deficiency of the enzyme, a-D-galactosidase, causes Fabry disease. This protocol utilizes a synthetic substrate, 4-methylumbelliferyl-a-galactoside, to measure the activity of the enzyme. The reaction releases 4-methylumbelliferone which is measured fluorimetrically.

Specimen Requirements:

The assay is performed on white blood cells or cultured cells. 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: 0.8-3.1 nmoles/min/mg protein
White Blood Cells: 0.6-2.0 nmoles/min/mg protein

Turnaround Time:

2-10 days
Skin fibroblasts assays are growth dependent.

CPT Codes and Prices:

Skin Fibroblast Culture: 82657, 84155, 88240, 88233
White Blood Cells: 82657, 84155

Shipping Information

Forms:

>> Biochemical Requisition

Test Codes:

Skin Fibroblast Culture: 4516
White Blood Cells: 4517

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