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.

 

Find test request forms for all tests performed in the Glycogen Storage Disease Laboratory including DNA testing, enzyme testing as well as testing for Pompe disease and Fabry disease.  Please complete all sections of the forms to expedite interpretation of results.  More>>

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. More>>

Find details about test ordering and shipping information. More>>

Sample Requirements
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CPT Codes
Follow this link for a list of CPT codes for tests offered in the Glycogen Storage Laboratory. More>>

Laboratory Certification
Find a list of our laboratory certifications by the College of American Pathologists (CAP), Joint Commision (JCAHO), Health Care Finance Adminstration (HCFA or CLIA) and find our federal tax ID number. More>>

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Laboratory Contact Information
Glycogen Disease Storage Laboratory

 

 

919-684-2036, option 1

Cardiovascular Genetics Clinic

Appointments: 919-681-2524