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Gaucher disease testing

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Gaucher disease testing

It’s important to diagnose Gaucher disease early on. Why? Because Gaucher disease is progressive. It can be debilitating.

If Gaucher disease runs in your family, or a family member is a carrier, it is recommended you get tested for the condition.

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Gaucher disease can be diagnosed through these different tests:


Enzyme testing measures glucocerebrosidase activity in the blood or urine. Glucocerebrosidase is the enzyme that is not working correctly in a person with Gaucher disease.


Genetic testing helps determine if a person is a carrier for Gaucher disease or has the condition.

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