Enzyme testing

A doctor can diagnose Gaucher disease by using a blood test (called an assay). The assay for Gaucher disease measures activity levels of the enzyme glucocerebrosidase.

The blood sample can be taken in the physician’s office, and may be sent to a specialized medical center for analysis. In healthy individuals, the test shows white blood cells that contain normal enzyme activity. In individuals with Gaucher disease, the enzyme activity is much lower.

Who should be tested?

Physicians may consider testing for Gaucher disease when associated signs and symptoms are present and are unexplained by other causes. Testing may also be considered for family members of individuals with Gaucher disease.

Other tests

A physician may also recommend the following tests to aid diagnosis and treatment:

Blood tests that can show a variety of abnormalities such as low red blood cell counts or low platelet counts

X-rays, magnetic resonance imaging (MRI), or computerized tomography (CT or “CAT” scans), to show abnormalities in bone

Magnetic resonance imaging (MRI) or computed tomography (CT) scan to measure the liver or spleen

Quality of life assessments

Special tests to evaluate possible effects on the brain and nervous system

Genetic testing

DNA analysis of a blood sample can determine who carries the mutated Gaucher gene. People at risk of being carriers may want to consider genetic counseling and family DNA testing. Individuals at risk include: relatives of Gaucher disease patients, persons of Ashkenazi Jewish descent, and symptomatic individuals. Go to Genetics & Gaucher Disease to learn more about Gaucher disease heredity.

Where to get tested

Gaucher disease treatment centers provide specialized diagnostic and counseling services for patients suspected of having Gaucher disease.

Talk to your doctor about where to get tested for Gaucher disease.

To locate a treatment center and professionals nearest to you who specialize in Gaucher disease, go to Locate a Treatment Center.