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Glycogen Storage Disease Laboratory

The Glycogen Storage Disease (GSD) Laboratory specializes in the enzymatic and molecular diagnosis of glycogen storage disorders, disorders of fructose metabolism, and lysosomal storage diseases. The Glycogen Storage Disease (GSD) laboratory provides state-of-the-art methods for diagnosing all types of GSDs using a variety of laboratory methods, including tissue enzyme assays, chemical analysis of glycogen, and DNA analysis.

Test Request Forms
Find test request forms for all tests performed in the Glycogen Storage Disease Laboratory including enzyme testing for Glycogen Storage Diseases, DNA sequencing, and testing for Lysosomal Storage Diseases. Please complete all sections of the forms to expedite interpretation of results.

Tests Offered / Disease Information
Follow this link for a comprehensive list of  tests offered in the Glycogen Storage Disease Laboratory as well as background information for each disorder. 

Sample Requirements
Find information about sample requirements and sample preparation for shipping. 
Test Ordering and Shipping Information
Find details about test ordering and shipping information.
CPT Codes
Follow this link for a list of CPT codes for tests offered in the Glycogen Storage Disease Laboratory.
Find a list of our laboratory certifications by the College of American Pathologists (CAP), Joint Commission (JCAHO), Health Care Finance Administration (HCFA or CLIA) and find our federal tax ID number.
List of hours of operation and days the laboratory will be closed. 

Client Survey
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Laboratory Contact Information

Glycogen Storage Disease Laboratory
Biochemical Genetics Laboratory
Duke University Hospital
801 Capitola Drive, Suite 6
Durham, NC 27713
Tel: 919.549.0445 ext. 2
Fax: 919.549.0709

For inquiries or to request copies of test results, please call the main office: 919.549.0445 and dial 0, 8:00am to 5:00pm EST.

Deeksha Bali, PhD 
Tel: 919.684.0025
Jennifer Sullivan-Saarela, MS, CGC
Genetic Counselor
Tel: 919-681-1991