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Fabry Disease Enzyme Analysis (alpha-galactosidase-A)


Alpha-Galactosidase A Deficiency, Leukocytes; 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.

Expected 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.

Specimen Requirements


Whole blood


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


Lavender-top (EDTA) tube


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

Causes for Rejection

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

Test Details


Diagnose patients with Fabry disease. Indications for Fabry disease analysis include: family history of Fabry disease and clinical characteristics of Fabry disease.

Pregnancy Week

0-13 Weeks
14-21 Weeks
22+ Weeks