10 mL (7.5 mL min.) Whole blood from 3 Lavender Top (EDTA) Green Top (Sodium Heparin) tubes. Ship refrigerated within 48 hours. Clinical history is mandatory.
Sample Daily by 4 pm; Report 4 days
Pompe disease is an autosomal recessive lysosomal storage disease due to deficiency of enzyme Alpha Glucosidase leading to primary glycogen storage. Infantile form of the disease is severe with hypotonia, cardiomyopathy ; hepatosplenomegaly. Late onset form presents with slowly progressive myopathy with respiratory insufficiency. Enzyme replacement therapy prolongs life in infantile form and prevents deterioration in late onset form of the disease.