Diagnosis of Fabry disease in male patients
Preferred screening test (serum) for Fabry disease
This test is not useful for patients undergoing a work up for a meat or meat-derived product allergy.
Genetics Test Information:
Serum is the preferred screening specimen for Fabry disease.
Enzyme testing is useful in identifying affected male patients.
Individuals with pseudodeficiency allelic variants can show reduced alpha-galactosidase A enzyme activity with this assay.
If testing needed for assessment of meat or meat-derived product allergy, order either ALGAL / Galactose-Alpha-1,3-Galactose (Alpha-Gal), IgE, Serum or APGAL / Galactose-Alpha-1,3-Galactose (Alpha-Gal) Mammalian Meat Allergy Profile, Serum.
Carrier detection using enzyme levels is unreliable for female patients as results may be within the normal values. Order FABRZ / Fabry Disease, Full Gene Analysis, Varies for testing carrier status.
Additional Testing Requirements:
Urine sediment analysis (CTSU / Ceramide Trihexosides and Sulfatides, Random, Urine) for the accumulating trihexoside substrate and measurement of globotriaosylsphingosine (LGB3S / Gobotriaosylsphingosine, Serum) are also recommended.
Note: Results from this assay are not useful for carrier determination. Carriers usually have levels in the normal range.
Deficiency (<0.016 U/L) of alpha-galactosidase in properly submitted specimens is diagnostic for Fabry disease in male patients. If concerned about specimen integrity, recheck using leukocyte testing (AGAW / Alpha-Galactosidase, Leukocytes).