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Turnaround Time
7 - 13 days Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Special Instructions
Please Note: Time-sensitive; specimens must be received within 4 days of collection; please collect/ship Monday-Thursday only. While enzyme testing is offered as a standalone test, it is strongly recommended that clients opt for both DNA and enzyme testing.
Methodology
Glucocerebrosidase (leukocyte) is measured by fluorometric enzyme assay using 4-methylumbelliferyl-beta-D-glucosida as substrate, with/without glucocerebrosidase-specific inhibitor.
Specimen Requirements
Information on collection, storage, and volume
Specimen
Whole blood
Volume
(Adult) Two tubes: 10 mL / (Child) One tube: 10 mL If ordering Enzyme and Mutation Analysis - Four tubes: 10 mL
Container
Lavender-top (EDTA) tube
Storage Instructions
Refrigerate after collection. Transport to the testing laboratory using cool packs. Do not allow the sample to freeze.
Causes for Rejection
Gross hemolysis; frozen sample; past viability window; unable to isolate white blood cells