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Print Synonyms Alpha-Galactosidase A Deficiency, Leukocytes; Fabry Disease;
Test Details
Turnaround Time
7 - 14 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.
Use
Diagnose patients with Fabry disease. Indications for Fabry disease analysis include: family history of Fabry disease and clinical characteristics of Fabry disease.
Special Instructions
Time-sensitive; specimens must be received within 4 days of collection; please collect/ship Monday-Thursday only. For Enzyme and DNA Sequence Analysis: Four 10 ml EDTA (lavender-top) tubes.
Specimen Requirements
Information on collection, storage, and volume
Specimen
Whole blood
Volume
(Adult) Two tubes: 10 mL / (Child) One tube: 10 mL
Container
Lavender-top (EDTA) tube
Causes for Rejection
Quantity not sufficient for analysis; frozen specimen; incorrect specimen collection tube
Collection
Refrigerate after collection. Do not allow the sample to freeze.