Pompe Disease Enzyme Analysis

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Test Details

Special Instructions

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.

Methodology

Determination of enzymatic activity with 4-methylumbelliferyl-?-D-galactopyranoside

Specimen Requirements

Information on collection, storage, and volume

Specimen

Blood spot

Volume

2 - 3 mL (unhemolyzed)

Storage Instructions

Refrigerate after collection. Transport to the testing laboratory using cool packs. Do not allow the sample to freeze. Time-sensitive; specimens must be received within four days of collection; please collect/ship Monday-Thursday only.

Collection

Dried blood spot collected from a finger stick or from whole blood collected in a lavender-top (EDTA) tube spotted onto Integrated Genetics-supplied and validated filter paper card. Fill 6 circles completely with blood.