Chemical Pathology - Enzyme

Clinical indications

For determination of CRIM status in patients with Pompe disease

Specimen requirement

1. 5 - 10 mL whole blood collected in CPT Vacutainer tube with sodium citrate or

2. Cultured fibroblasts

Dispatch and handling instructions

Contact the Enzyme Laboratory before sending sample. Contact the Enzyme Laboratory if CPT sodium citrate tubes are required:

1. Send CPT tube (ideally centrifuged prior to shipping) to reach the lab within 24 - 48 hours of collection. Keep sample chilled. Do NOT allow sample to freeze

2. Send flask completely filled with medium at room temperature a in well insulated container. To reach lab ideally within 24 hours

Turnaround time

1. As soon as practically possible

2. 4 to 6 weeks


Cross reactive immunologic material, Pompe disease, Myozyme, Lumizyme

Is it IS0 15189 accredited?

1. Yes

2. Yes