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α-Galactosidase A Deficiency, Leukocytes

CPT: 82657
Updated on 12/4/2019
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Synonyms

  • Fabry Disease

Special Instructions

Specimens must arrive in the laboratory within four days of collection.


Expected Turnaround Time

7 - 14 days

7 - 14 days

7 - 14 days

7 - 14 days

7 - 14 days


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
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.
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

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