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Diagnosis of Fabry disease in males
Serum testing is the preferred screen for Fabry disease
Serum is the preferred screening specimen.
Enzyme testing is useful in identifying affected males.
Enzyme levels for carriers are usually within the normal range. Order FABMS / Fabry Disease, Full Gene Analysis for carrier testing.
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.
This test is used for the diagnosis of Fabry disease in males only.
Treatment with enzyme replacement therapy is available for individuals with Fabry disease.
This test is not suitable for carrier detection in females. It is recommended that molecular testing (FABMS / Fabry Disease, Full Gene Analysis) be performed for diagnosis in females.
The following algorithms are available in Special Instructions:
-Fabry Disease: Newborn Screen-Positive Follow-up
-Fabry Disease Testing Algorithm