Description:

The deficiency of a-D-glucosidase causes Pompe disease (also known as acid maltase deficiency). This assay utilizes the synthetic substrate 4 methylumbelliferyl-a-D-glucoside. Activity is measured by determining fluorometrically the release of 4-methyl-umbelliferone.

Specimen Requirements:

This assay is performed on cultured skin fibroblasts and tissue samples only. For fibroblasts, send two T25 flasks of confluent cells in an insulated container by overnight carrier. This assay can be performed on muscle tissue. Send > 10 mg of tissue. The specimen should be frozen rapidly after sampling. Do not add any liquid to the specimen. Ship on dry ice by overnight carrier.

Normal Range:

Skin Fibroblasts: 200-600 pmol/min/mg protein
Muscle: 30-200 pmol/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
Muscle: 82657, 84155

Shipping Information

Forms:

>> Biochemical Requisition

Test Codes:

Skin Fibroblast Culture: 4520
Muscle: 4519

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