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How is Fabry disease diagnosed?

Testing of Fabry disease is done through a simple blood test or tests. Since men and women have different numbers of X chromosomes, the type of testing required for diagnosis of Fabry disease is different in men and women. Men can be diagnosed with Fabry disease by measuring their level of functioning enzyme alone. Women need to have enzyme and DNA analysis to find out if they have Fabry Disease.  Before a baby is born, it can be detected through prenatal tests like amniocentesis and chorionic villus sampling (CVS).

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