Diagnosis and Testing

Because some of the signs and symptoms associated with Gaucher disease are similar to those of other more common disorders, it may take months or even years for people with Gaucher disease to get an accurate diagnosis. For example, joint pain may be attributed to arthritis, or bone pain in the upper legs may be attributed to ‘growing pains.’ Low red blood cell or platelet count may at first be diagnosed as a blood disorder or lead to a work up for leukemia or lymphoma. Also, since the initial signs and symptoms may seem rather harmless, patients and physicians may not suspect a progressive disease for a long time.

Accurate and definitive diagnosis of Gaucher disease can be made with a simple blood test (or assay) that measures glucocerebrosidase enzyme activity. The blood sample can be taken in the physician’s office, but may need to 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, enzyme activity is much lower.

Alternatively, the physician may obtain a skin sample, as certain skin cells called fibroblasts can be used to measure glucocerebrosidase activity levels.

A bone marrow biopsy is often taken when a physician suspects a blood cancer, such as leukemia. This bone marrow sample may be used to check for Gaucher cells. The cells are then viewed under a microscope. However, the definitive testing method for Gaucher disease continues to be a simple blood test (or enzyme assay) that measures enzyme activity.

Other tests

A physician may also recommend the following tests to aid in diagnosis and to establish the severity and progression of the disease.

  • Blood tests that can show a variety of abnormalities such as low red blood cell or low platelet counts, signs of chronic inflammation, or of some liver dysfunction
  • X-rays, magnetic resonance imaging (MRI), or computerized tomography (CT or "CAT" scans), to show abnormalities in bone
  • MRI or CT scan to measure the liver and spleen
  • Quality of life assessments (questions on how you feel and function in your everyday life)
  • X-rays and/or electrocardiogram (ECG) or other tests to assess whether the lungs and/or heart are involved
  • Special tests to evaluate possible effects on the brain or peripheral nerves

Who should be tested?

Gaucher disease testing should be considered for anyone with Gaucher symptoms, especially delayed growth, general weakness, enlarged spleen or liver, anemia, bone pain, or ‘spontaneous’ fractures.

Additionally, close family members of an individual with Gaucher disease should be considered for testing in order to determine if they are carriers, or individuals who could pass on Gaucher disease.

For more information, please visit the Family Testing page.

Where to get tested

Comprehensive Gaucher disease treatment centers provide specialized diagnostic and counseling services for patients suspected of having Gaucher disease. Talk to your doctor about the benefits of going to a Gaucher treatment center.

Lysosomal Storage Disorders

Gaucher disease is one of more than 40 rare inherited genetic disorders classified as a lysosomal storage disorder (LSD). Individually each LSD is relatively rare, but grouped together they affect about 1 in every 7,700 babies born. Learn more about Lysosomal Storage Disorders »

Gaucher Registry

For more than two decades, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »