Gaucher disease is a metabolic condition brought on by insufficient activity of the enzyme beta-glucocerebrosidase. The GBA gene on chromosome 1 carries the code to produce beta-glucocerebrosidase; mutations in GBA cause this enzyme to be produced at low levels or not at all. The most common symptoms of Gaucher disease include enlargement of the spleen and the liver, at which time doctors may recommend a blood test checking for levels of beta-glucocerebrosidase activity to confirm a diagnosis.

Beta-glucocerebrosidase activity

The blood test to determine the activity of the beta-glucocerebrosidase enzyme is the most commonly used diagnostic test. A small amount of blood is used for the so-called beta-glucosidase leukocyte (BGL) test, which helps measure the activity of the enzyme.

Genetic testing

Genetic testing to identify mutations in the GBA gene is recommended for families with a history of Gaucher disease. It also is recommended for those populations that are at a higher risk of developing the condition, such as the Ashkenazi Jews. A DNA test can identify a mutation in the GBA gene from a saliva or blood sample. There are more than 400 mutations that have been identified in the GBA gene that can cause Gaucher disease.

The symptoms of Gaucher disease only manifest if there are two faulty copies of the GBA gene. People who have only one mutated copy of the gene do not show any symptoms, but can pass on the disease to the next generation. They are called “carriers.” Genetic testing can help identify such carriers.

In some rare instances, a blood test checking levels of beta-glucocerebrosidase enzyme activity may be inconclusive, especially in the case of carriers. Genetic testing is beneficial in such cases to confirm a diagnosis of Gaucher disease.

For cases in which one person in a family has been diagnosed with Gaucher disease, it is recommended that his or her siblings and other family members also be tested genetically.

For couples from families with a history of Gaucher disease, prenatal genetic screening can be useful for early diagnosis.

Similarly, newborn screening is helpful for the early diagnosis of the condition. However, only a few states in the U.S., including Illinois and Missouri — and certain hospitals in New York, include Gaucher disease in their newborn screen panel.


Imaging techniques usually are not used to diagnose Gaucher disease. However, they can be very helpful in monitoring its progression.


Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.