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
Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease
This test is not useful for patients undergoing a work up for a meat or meat-derived product allergy.
Fabry disease is caused by deficient activity of the enzyme alpha-galactosidase A and results in damage to multiple organs including the kidney, heart, and brain.
Treatment with enzyme replacement therapy is available for individuals with Fabry disease.
The following are available in Special Instructions:
-Fabry Disease: Newborn Screen-Positive Follow-up
-Fabry Disease Diagnostic Testing Algorithm
-Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A
Flow Injection Analysis-Tandem Mass Spectrometry