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, consider getting tested for the condition.
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How Gaucher disease is diagnosed
Genetic testing can be used to identify if a person is a carrier for Gaucher disease. The diagnosis can be confirmed through enzyme activity testing.
ENZYME TESTING
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.