A simple test, called the beta-glucosidase leukocyte test, measures the levels of the enzyme glucocerebrosidase. This is a standard tool that doctors use to test someone who is thought to have Gaucher disease, as usually they have low levels of this enzyme. The test requires a blood sample or small skin sample to measure the enzyme levels. However, the results are not confirmatory so individuals would then be referred by their doctor to undergo genetic testing.
Genetic testing can identify specific genetic mutations that result in Gaucher disease to confirm the diagnosis. Genetic testing requires a blood or saliva sample. The identification of specific mutations resulting in Gaucher disease confirms the diagnosis.
After an individual has a confirmed diagnosis of Gaucher disease, genetic testing can also be used to identify carriers in their family. Genetic counseling can be offered to help inform family planning. Carrier screening for mutations is recommended for Ashkenazi Jewish people and other individuals who are at high risk for the disease.
If you have a confirmed diagnosis of type 1 Gaucher disease, and know how genetic testing works, talk to your family members and urge them to get tested too.