Laboratory testing may confirm a Fabry disease diagnosis
There are two types of tests used to confirm a Fabry disease diagnosis:
- A blood test to determine alpha-Gal A enzyme activity. This test may be used for diagnosis in males, but not females.
- A genetic saliva or blood test to determine the exact GLA variant. This test is required for Fabry disease diagnosis in females and confirms diagnosis in males. It may also help determine what treatment options are appropriate for you.
Talk to your healthcare provider to learn more about laboratory testing for Fabry disease.
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