24 %

Pompe Disease Quantitative, Blood

222 Ratings

Rs 2,450 Rs 3,234

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Test Description not updated

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.

Enzyme assay

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.


Clinical history is mandatory.

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