Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Diagnosis of Fabry disease in male patients using blood spot specimens
Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease
Follow-up to an abnormal newborn screen for Fabry disease
This test is not useful for patients undergoing a work up for a meat or meat-derived product allergy.
This test provides diagnostic testing for males with positive newborn screen results, positive family history, or clinical signs and symptoms suspicious for Fabry disease.
The following algorithms are available in Special Instructions:
-Fabry Disease Diagnostic Testing Algorithm
-Fabry Disease: Newborn Screen-Positive Follow-up
For more information, see Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A in Special Instructions.
Fluorometric Enzyme Assay