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  • Q&A with Australian Health Practitioners

    How is Fabry disease diagnosed?

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  • Team HealthShare

    HealthShare Member

    The method of diagnosis is dependent on the gender of the patient. Males can be diagnosed through a blood test which measures the amount of the enzyme, alpha-GAL, in the blood. Females who have Fabry disease may have normal levels of alpha-GAL in their blood. In this case, genetic testing is required to determine whether they have the disorder by detecting the presence of the Fabry mutation in their DNA. 

     

    For further information on the diagnosis of Fabry disease visit: https://www.fabry.com.au

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