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α-Galactosidase A Deficiency, Leukocytes

CPT 82657
Synonyms
  • Fabry Disease

Test Details

Methodology

Determination of enzymatic activity with 4-methylumbelliferyl-α-D-galactopyranoside

Result 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

Use

Diagnosis of patients with Fabry disease

Special Instructions

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

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).

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

Specimen Requirements

Specimen

Whole blood

Volume

10 mL

Minimum Volume

5 mL

Container

Yellow-top (ACD) tube

Collection Instructions

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.

Stability Requirements

Temperature

Period

Refrigerated

4 days

Reference Range

≥ 35.6 nmol/hour/mg

Storage Instructions

Refrigerate.

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

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
Order Code402388
Order Code NameAlpha-Galactosidase A
Order Loinc24049-9
Result Code402389
Result Code NameAlpha-Galactosidase activity
UofMnmol/hr/mg prt
Result LOINC24049-9
Order Code402388
Order Code NameAlpha-Galactosidase A
Order Loinc24049-9
Result Code402390
Result Code NameInterpretation
UofM
Result LOINCN/A
Order Code402388
Order Code NameAlpha-Galactosidase A
Order Loinc24049-9
Result Code402402
Result Code NameDirector Review
UofM
Result LOINCN/A
Order Code402388
Order Code NameAlpha-Galactosidase A
Order Loinc24049-9
Result Code402391
Result Code NameMethodology
UofM
Result LOINCN/A
Order Code402388
Order Code NameAlpha-Galactosidase A
Order Loinc24049-9
Result Code402308
Result Code NameDisclaimer:
UofM
Result LOINCN/A