DIAGNOSIS AND TESTING
This site is intended for US audiences
Diagnosis of Gaucher disease is conducted with the following:
1. A clinical evaluation
completed by your doctor
2. A simple test to measure the levels of the enzyme glucocerebrosidase
3. Genetic testing that confirms the diagnosis by identifying the specific genetic mutations that result in Gaucher
As the symptoms of Gaucher disease can worsen with time, it is important to diagnose as early as possible. This can then lead to earlier symptom
management.
If you are concerned about Gaucher disease, know the steps to diagnosis, talk to your doctor, and get tested.
