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Fabry Disease Enzyme Analysis (alpha-galactosidase-A)

CPT:

Synonyms

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


Specimen

Whole blood


Volume

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


Container

Lavender-top (EDTA) tube


Collection

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


Use

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

Patient?

Patient?

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