Physicians diagnose Gaucher disease (pronounced go-SHAY) with a standard blood test called a beta-glucosidase leukocyte (BGL) test available at a hospital or doctor’s office. Genetic screening identifies carriers, people who do not have the disease but can pass the Gaucher gene to their children.
While Gaucher disease can affect a person of any ethnic background, the disorder is especially common among Jews of Ashkenazi (Eastern European) descent. Approximately 1 in 450 are born with Gaucher disease, with up to 1 in 10 being carriers. Testing for Gaucher disease is especially important for this group.
How Is Gaucher Disease Diagnosed?
Doctors use a standard blood test called a beta-glucosidase leukocyte (BGL) test to check enzyme activity and diagnose Gaucher disease. However, most physicians are unfamiliar with Gaucher disease. A pediatrician may notice an enlarged spleen, bleeding problems and low platelets without considering Gaucher disease. Many patients undergo invasive bone marrow testing before receiving a diagnosis as doctors try to rule out leukemia and blood cancers.
Fortunately, bone marrow testing is not necessary to diagnose Gaucher disease. In fact, physicians can diagnose Gaucher disease with an enzyme test available at a hospital or your doctor’s office.
Because Gaucher disease is so rare, it is often a specialist such as a hematologist (blood doctor) or an orthopedist (bone doctor) who makes the diagnosis. If you have a family history or display symptoms of Gaucher disease, you may want to get tested.
Enzyme Test for Gaucher Disease
An enzyme test called a beta-glucosidase leukocyte (BGL) test is the main tool that physicians use to diagnose Gaucher disease. This is because all patients with Gaucher disease will have low enzyme activity levels.
Your physician can measure enzyme activity with a standard blood test. For adults, the physician will draw a blood sample with a needle and send the sample for testing. For babies, many physicians now use a less invasive heel stick (a faster, smaller prick).
Most major labs, such as Counsyl, Labcorp and Quest Diagnostics, are familiar with a beta-glucosidase leukocyte (BGL) enzyme assay and have historically been able to perform the test.
Genetic Testing for Gaucher Disease
Physicians use a blood or saliva sample for genetic testing. This DNA test identifies a patient’s specific genetic mutations, with just one mutation indicating carrier status. If you are a carrier, it means you do not have Gaucher disease or symptoms, but you can pass the Gaucher gene to your children. Learn more about Gaucher disease carrier status.
There are more than 400 genetic mutations known to cause Gaucher disease. However, 4 genetic mutations account for roughly 95 percent of cases in the Ashkenazi Jewish population and 50 percent of cases in the general population.
How Accurate Is Testing for Gaucher Disease?
A beta-glucosidase leukocyte (BGL) test will almost certainly show whether or not a person has Gaucher disease since all patients with the disease have low enzyme activity. Carriers may occasionally have borderline low enzyme levels, requiring genetic testing to clarify whether the person actually has Gaucher disease.
For carrier testing, a targeted mutation test will identify roughly 89 percent of carriers. Gene sequencing can identify over 99 percent of Gaucher disease carriers.
Who Should Get Tested for Gaucher Disease?
You should get tested if you experience symptoms of Gaucher disease, or if it runs in your family. Even if you do not have Gaucher disease, it may be helpful to know if you are a carrier.
If one of your children has been diagnosed with Gaucher disease, you should also have your other children tested. It’s important for those at risk to get tested even if they do not have symptoms, since the disease can cause permanent damage if left untreated. You may also want to inform other family members such as your siblings about the diagnosis. Learn more about Gaucher disease inheritance and genetics.
Newborn Testing for Gaucher Disease
Only Missouri and Illinois currently test for Gaucher disease on newborn screening tests, plus some hospitals in New York. Most states do not yet include Gaucher disease on the recommended uniform screening panel (RUSP) for newborn testing.
Bone Marrow Testing
A bone marrow test is not required to diagnose Gaucher disease. However, some doctors end up diagnosing Gaucher disease with this test while trying to rule out other blood disorders.
When a person has the disease, the test will usually show fat-laden Gaucher cells with an abnormal appearance. In rare cases, the test does not accurately identify Gaucher cells, or those identified may indicate a blood disorder other than Gaucher disease.
Additional Testing Resources
If you want more information on testing for Gaucher disease, these resources may help:
- Center for Jewish Genetics: The Center for Jewish Genetics is an educational resource for hereditary cancers and Jewish genetic disorders. The center offers subsidized genetic counseling and screening.
- Jewish Genetic Disease Consortium: The Jewish Genetic Disease Consortium is an alliance of nonprofits that encourages genetic screening for everyone who has any Jewish heritage.
- Victor Center for Jewish Genetic Diseases: The Victor Center for Jewish Genetic Diseases provides affordable genetic counseling and screening for healthy people who are at risk of being carriers.
- JScreen: JScreen is a nonprofit public health initiative that provides easy home test kits for people of Jewish descent. Genetic counselors from Emory University School of Medicine assess the results and provide additional information and resources.
- National Society of Genetic Counselors: The National Society of Genetic Counselors is an online directory where you can search for a genetic counselor in your area.
Find out more about resources for Gaucher disease patients and families.