Find Locations
For hours, walk-ins and appointments.Synonyms
- Fabry Disease
Special Instructions
Specimens must arrive in the laboratory within four days of collection.
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.
Related Documents
Specimen Requirements
Specimen
Whole blood
Volume
10 mL
Minimum Volume
5 mL
Container
Yellow-top (ACD) tube
Collection
Refrigerate after collection. Transport to the testing lab using cool pack or LabCorp transport kit. Do not allow the sample to freeze. Sample must arrive in the laboratory within four days of collection.
Storage Instructions
Refrigerate.
Stability Requirements
Temperature | Period |
|---|---|
Refrigerated | 4 days |
Causes for Rejection
Quantity not sufficient for analysis; specimen frozen; specimen not received within four days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate white blood cells
Test Details
Use
Diagnosis of patients with Fabry disease
Limitations
Due to random X-chromosome inactivation, enzyme results may not reflect Fabry disease carrier status in females.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Methodology
Determination of enzymatic activity with 4-methylumbelliferyl-α-D-galactopyranoside
Reference Interval
≥ 35.6 nmol/hour/mg
References
Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med. 1973 Feb;81(2):157-71.4683418
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 402388 | Alpha-Galactosidase A | 24049-9 | 402389 | Alpha-Galactosidase activity | nmol/hr/mg prt | 24049-9 |
| 402388 | Alpha-Galactosidase A | 24049-9 | 402390 | Interpretation | N/A | |
| 402388 | Alpha-Galactosidase A | 24049-9 | 402402 | Director Review | N/A | |
| 402388 | Alpha-Galactosidase A | 24049-9 | 402391 | Methodology | N/A | |
| 402388 | Alpha-Galactosidase A | 24049-9 | 402308 | Disclaimer: | N/A |
© 2021 Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.
CPT Statement/Profile Statement
The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf