Routine screen for Pompe is by enzyme assay in dried blood spot card, note however these are specific cards and are available from Metabolic Laboratory.

Muscle, liver or skin biopsy may be required for this test. please note this will only be requested by Metabolic Physician or Consultant.
Muscle or liver biopsy must be immediately frozen in dry ice.
Skin biopsy is collected into Cytogenetics Culture Medium (obtained from Cytogenetics).

APPLICATION:  Diagnosis of Glycogen Storage Disease Type II (Pompe Disease).