Molecular testing of the GAA gene (Pompe disease)

Code: 3156

The availability and turnaround time of this test should be confirmed with the unit before collection.

Method

Molecular hybridization (PCR)

Collection requirements

EDTA: Blood (5 mL). Note: Clinical history is mandatory.

Sample stability

Refrigerated at 2-8 °C

Turnaround time

23 working days

Preparation and notes

IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday.