Glycogen Storage Disease Laboratory

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Director: Deeksha Bali, Ph.D. bali0001@mc.duke.edu

Tel: 919-549-0445

Fax: 919-549-0709

About the Glycogen Storage Disease Lab

As part of the Divisonal Biochemical Genetics Laboratory, the Glycogen Storage Disease (GSD) Laboratory specializes in the enzymatic and molecular diagnosis of glycogen storage disorders, and disorders of fructose metabolism. A number of tests are available for the different types of GSDs.

DIAGNOSTIC TEST INFORMATION:

Disease Specific Information

DNA Mutation Test Request Form

ENZYME Test Request Form

Patient Sample Information Sheet

Sample Preparation Instructions

Sample Shipping Instructions

TESTING FOR POMPE DISEASE (Glycogen Storage Disease Type II):

Enzyme Assays, Mutation Analysis and Urinary Hex4 Biomarker Assay

We perform enzyme assays for acid alpha-glucosidase (GAA) in blood, cultured skin fibroblasts, muscle and liver biopsies.

We also perform prenatal diagnosis in cultured aminocytes and chorionic villi.

We offer targeted mutation analysis for common mutations in the GAA gene.

Urinary hexose tetrasaccharide (Hex4) is a marker of disease burden in Pompe disease and is used to monitor patients with Pompe disease and as a second tier diagnostic test.

These tests may be ordered using the following form:

POMPE Test Request Form and Sample Information

Note that we prefer fresh whole blood, delivered on ice pack at 4oC for the blood enzyme assay, rather than pre-dried blood spots.

Note that the urinary Hex4 biomarker assay may be used as a second tier diagnostic test following a positive enzyme assay result. This test is performed by the Mass Spectrometry section of our laboratory. Please contact Sarah Young, Ph.D. (tel: 919-549-0445x117) young116@mc.duke.edu for questions regarding this test.