Pompe disease is an inborn error of glycogen metabolism due to a deficiency of acid alpha-glucosidase. In the infantile form, clinical symptoms include hypotonia, failure to thrive, and progressive hypertrophic cardiomyopathy. The late-onset form can present from childhood through adulthood with progressive muscle weakness and respiratory dysfunction. The physical disability is varied and does not directly correlate with chronological age. Treatment is available for symptomatic individuals with Pompe disease.
Indications for Pompe disease mutation analysis by sequencing include: individuals with a family history or clinical characteristics of Pompe disease and individuals who have tested positive for GAA deficiency by enzyme test or newborn screening assays.
Dried blood spot
Fill 6 circles completely with blood
Dried blood spots collected on Integrated Genetics-provided blood spot card
Dried blood spot collected from a finger stick or from whole blood collected in a lavender-top tube spotted onto Integrated Genetics-supplied and validated filter paper card. Whole blood must be spotted on the filter paper card prior to sending sample. Allow filter paper to dry thoroughly before placing in zip lock bag for shipment.