Use

This test is useful for the screening of patients with Fabry disease when a serum specimen is not available. It is an X-linked recessive lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A. Reduced enzyme activity results in the accumulation of glycosphingolipids, particularly in the kidney, heart, and brain. The test measures the glycosphingolipid, globotriaosylsphingosine (LGb3), which may be elevated in symptomatic patients and is helpful in monitoring disease progression and treatment response.