Alpha-Galactosidase, Leukocytes

Casandra

Casandra Test Code MC11395Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID AGAWCPT Code 82657

Alpha-Galactosidase, Leukocytes

Clinical Use

Use

This test is primarily used for the diagnosis of Fabry disease in male patients. It is useful in verifying abnormal serum alpha-galactosidase results in male patients who present with clinical symptoms suggestive of Fabry disease. Fabry disease is an X-linked lysosomal disorder caused by deficient activity of the enzyme alpha-galactosidase A, leading to glycosylsphingolipid deposition in the kidneys, heart, and brain. Early diagnosis and treatment with enzyme replacement therapy can significantly improve clinical outcomes.

Special Instructions

For optimal isolation of leukocytes, specimens need to arrive refrigerated within 6 days of collection. Collection should be from Monday through Thursday only, and not the day before a holiday. Carrier detection using enzyme levels is unreliable for females and a different test is recommended for them. If testing is for a meat allergy, a different test should be ordered. Informed consent is required for New York clients.

Limitations

The test is not useful for evaluating patients for meat allergies. Some individuals with pseudodeficiency allelic variants may show reduced enzyme activity with this assay. Carrier status cannot be determined as enzyme levels can appear within normal range even if a person is a carrier. Variants in the GLA gene can cause reduced enzyme activity, and more than 630 genetic alterations in the GLA gene have been identified. Results from this assay do not reflect carrier status and molecular genetic analysis is recommended for carrier detection.

Test Details

New York Approved