Rare Disease Report

Pompe Disease - Diagnosis is a Simple Blood Test

MARCH 20, 2016
Stephanie Austin



The test for Pompe disease is a simple blood test. Unfortunately, knowing when to test for Pompe disease is a bit trickier. In this interview with genetic counselor Stephanie Austin of Duke University, Ms Austin talks about some of the signs and symptoms that would prompt the test for Pompe disease.

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