Fabry Disease Enzyme Analysis (alpha-galactosidase-A)

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.


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


Whole blood


(Adult) Two tubes: 10 mL / (Child) One tube: 10 mL


Lavender-top (EDTA) tube

Causes for Rejection

Quantity not sufficient for analysis; frozen specimen; incorrect specimen collection tube


Refrigerate after collection. Do not allow the sample to freeze.