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Pompe Disease

Pompe Disease


Blood spot card using an EDTA blood sample will be made in the laboratory. A minimum of 2 fully filled blood spots.

Follow-up, confirmatory testing is required in low enzyme activity. These requests are triaged by the Genomics Department.

Test Usage

Gaucher disease (β-glucosidase deficiency) is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats, specifically the glycolipid glucocerebroside, throughout the body but especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from patient to patient. Some individuals are asymptomatic; others may have serious complications. Gaucher disease is caused by changes (mutations) in the GBA gene.

There are three distinct forms of Gaucher disease separated by the absence (type 1) or presence and extent (type 2 or type 3) of neurological complications. Gaucher disease affects approximately 1 in 100,000 people in the general population, and 1 in 855 people in the Ashkenazi Jewish community.


Referred Test

Turnaround Time

4 weeks

Cannot be added on to an existing request




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