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Pompe Disease Dried Blood Spot (DBS) Testing and Gene Sequencing Program

The Duke Glycogen Storage Disease (GSD) Laboratory offers non-invasive and free testing through the Pompe Disease Dried Blood Spot (DBS) Testing and Gene Sequencing Program.

To test patients through this program, follow these simple steps:

• Collect 3 -5 mL whole blood in an EDTA (purple top) tube
• Complete the requisition form (available below or from your Genzyme representative)
• Send the sample to the address provided on the requisition form within 24 hours of collection:
  • If the sample is collected on a Friday, please store at 4°C through the weekend and ship sample on the following Monday with a cold-pak enclosed
  • The Pompe Disease Dried Blood Spot Testing and GAA Sequencing Program does not cover costs associated with obtaining and shipping the sample
• If a patient’s GAA enzyme activity testing on blood sample is found to be low, the ordering physician will be notified to recommend follow up testing through GAA full gene sequencing. If a patient’s DBS tests negative, you will receive results via the mail within 10 days.
• If you would like GAA gene sequencing to be done as a reflective test for confirmation of diagnosis, please indicate this by ordering both tests on the requisition form.

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