• Overview
• Inheritance
• Symptoms
  • The Liver and Spleen
  • The Blood
  • The Bones
• Testing
• Treatment
• Resources

Testing

Enzyme testing
The most accurate diagnosis of Gaucher disease is made based on the results of a blood test that measures the level of glucocerebrosidase enzyme activity. In people with Gaucher disease, the amount of enzyme activity is much lower than normal. Enzyme testing is not as reliable for detecting Gaucher carriers, since some carriers have a glucocerebrosidase level in the normal range.

Bone marrow biopsy
Occasionally, a diagnosis of Gaucher disease is made based on the results of a bone marrow biopsy in which Gaucher cells are seen. This test was often used in the past to diagnose Gaucher disease. Today, this test is not generally done to diagnose Gaucher disease, since taking a blood sample for enzyme testing is easier, more accurate, and less invasive for patients.

DNA testing
DNA testing, also done on the blood, detects the 5 most common gene mutations that cause Gaucher disease. These 5 mutations account for about 95% of Gaucher disease among Jewish patients and about 68% among non-Jewish patients.

DNA testing is not generally done to diagnose Gaucher disease; however, it may be useful to confirm a diagnosis made by enzyme testing. DNA test results may also give more information about a person's Gaucher disease; for example, people with Gaucher disease who have at least one copy of the N370S mutation have type I Gaucher disease. However, DNA test results do not necessarily relate to the severity of the disease or to a person's specific symptoms, and the test result will not change medical treatment. Identifying which Gaucher gene mutations are present in an affected person may also be helpful to other family members who wish to know if they are a carrier of one of those mutations. Carrier testing is available to relatives of people with Gaucher disease.

Carrier testing by DNA analysis is also available for partners of Gaucher carriers and partners of people with Gaucher disease, so that couples may learn if their children are at risk to inherit the disease.

Prenatal diagnosis of Gaucher disease may be available in pregnancies involving a fetus known to be at risk.

DNA testing for Gaucher disease is performed only in some specialized genetics laboratories. Generally, people who have DNA testing first meet with a genetic counselor, who can explain the testing in more detail and answer any questions. The genetic counselor can also help explain the test results, once they are available. Cindy Johnston, MS is a genetic counselor at the Center; she is available to meet with patients to discuss DNA testing and other genetic issues.