Testing

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Testing for Fabry

There is a genetic test that can be used to confirm whether or not a patient has Fabry. The doctor will check the level of the enzyme (Alpha-galactosidase A) as there are lower levels than normal in a Fabry sufferer. Tests in the early stages of pregnancy are available and can determine whether the fetus is affected by Fabry. DNA analysis determines whether or not a woman is a carrier by finding the specific change or mutation in the Fabry gene. When this is known, any female relatives can be reliably tested.