MDA Pompe Testing Program
The Muscular Dystrophy Association (MDA) has partnered with Genzyme to provide accurate, non-invasive and free testing of the GAA enzyme activity in blood for any individual for whom there is suspicion of Pompe disease. This testing program allows for the free GAA enzyme activity testing by the dried blood spot (DBS) method. MDA will cover the cost of collection and testing of the patient’s blood sample. All clinic physicians are able to order this free testing for any patient seen in their clinic.
There are 3 simple steps to access testing through the MDA Pompe Testing Program:
Once you write the order for the test, a dried blood spot (DBS) sample or whole blood should be obtained from your patient. Then just follow these three steps:
- Choose a participating lab
See below for laboratory contact information and sample type accepted.
- Complete the requisition form
Be sure to include your name and contact information to receive test results and write the local MDA office address in the billing section of the form
- Send the sample to the participating lab you've selected
You can expect results in 7-10 days
Physicians with infantile patients should contact the laboratory to discuss the need for immediate testing.
Additional Important Information
Testing results will be sent directly to you for review with your patient; the invoice will be be direct billed to your local MDA office for payment, thus leaving your MDA clinic grant funds for use on other vital services.
Participating Laboratories
The following laboratories participate in the Pompe Testing Program. Please refer to the information below for laboratory contact information and preferred sample types.
Duke University
Contact Deeksha Bali, PhD Shipping Address Duke University Hospital
Glycogen Storage Disease Laboratory,
Biochemical Genetics Laboratory
801 Capitola Drive, Suite 6
Durham, NC 27713 Telephone 919-549-0445 Fax 919-549-0709 Website http://medgenetics.pediatrics.duke.edu Preferred Sample Type Whole blood in EDTA (lavender top tube; 3 mL minimum). FedEx overnight with cold pack. Will also accept dried blood spot sample. Forms Duke University Requisition Form
Seattle Children’s Hospital
Contact Rhona Jack, PhD Shipping Address Seattle Children’s Hospital and Regional Medical Center
Department of Laboratories A-6901
4800 Sand Point Way NE
Seattle, WA 98105 Telephone 206-987-2569 Website http://www.seattlechildrens.org Preferred Sample Type Dried blood spot. Will accept whole blood in ACD (yellow top; 3 mL minimum) tube. Forms Seattle Children's Hospital Requisition Form
Emory University
Contact Eleanor Botha, MS, CGC, CCRC
Genetic Counselor Shipping Address Emory University Genetics
2165 North Decatur Rd
Decatur, GA 30033 Telephone 404-778-8517 Fax 404-778-8562 Website http://genetics.emory.edu Preferred Sample Type Whole blood (5-10 mL) in sodium heparin (green top) tube. Ship within 24 hours via FedEx at room temperature. Equal preference for dried blood spot or whole blood for enzyme testing. Will send dried blood spot testing kits to have available at MDA clinic if requested. Forms Emory University Requisition Form
Note: Mutation analysis is not covered by this grant.
For more information about the Pompe Testing Program contact the Health Care Service Coordinator at your local MDA office or your Genzyme representative.
MDA and Genzyme are pleased to work together to offer this free testing program to help patients with suspected Pompe disease. Making a diagnosis matters because making the diagnosis is the first step in managing this devastating disorder.
Find Diagnostic Labs
Get a list of laboratories that can perform enzyme assays and other useful tests to aid in the diagnosis of Pompe disease.
Download Lab List
(Intended for the U.S. only)
Ask a Medical Question
Genzyme Medical Information can answer questions about Pompe disease.
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