While an evaluation of the complex signs and symptoms can help physicians arrive at a preliminary diagnosis, several tests are available for confirmation of the diagnosis of Gaucher disease. In the past, invasive bone-marrow tests were most common. Due to the overlap in presentation between Gaucher and hematological malignancies, bone marrow histology is still frequently done in Gaucher patients. Today, measurement of ß-glucocerebrosidase activity can be used to measure glucocerebrosidase activity in cells obtained from the patient, providing a definitive diagnosis of Gaucher disease: enzyme activity of 30% or less than normal definitively indicates Gaucher disease. Enzyme activity can be measured either in leukocytes, which are fairly easily obtained from peripheral blood, or in skin fibroblasts, e.g., grown from skin biopsies.

DNA testing can be used to aid diagnosis or screen for carrier status. In individuals of Eastern European ancestry, four specific gene mutations occur in 89% to 96% of Gaucher disease patients.[2] This method is considered less sensitive than enzyme analysis when used as a diagnostic tool in the general population.

DNA testing, however, provides the most reliable means of identifying carriers. Testing is recommended for all first-degree relatives of a confirmed Gaucher disease patient.[3]

Additional evaluations

Apart from diagnostic and carrier testing, other evaluations are recommended to gauge disease progression and tailor therapy. These include skeletal imaging, hematological assays, and visceral evaluations.[1] Go to Assessing and Monitoring Gaucher to learn more about supplemental testing to aid patient care.

Go to Making a Diagnosis to learn more about the symptoms that can point a physician to consider a full workup for Gaucher disease.

Gaucher disease treatment centers

Gaucher disease treatment centers provide specialized diagnostic and treatment services for patients with Gaucher disease. They are staffed by physicians and other medical professionals (biochemists, geneticists, hematologists, genetic counselors, and others) who specialize in the treatment of Gaucher disease and counseling for related issues. These specialists may offer guidance on this challenging condition. Please contact Genzyme Medical Information at 800-745-4447, option 2 for help finding a treatment center for Gaucher disease.


1. The Gaucher Registry. “Recommendations on Monitoring Gaucher Disease.” Genzyme Corporation. 2005.

2. Grabowski G. Gaucher disease: enzymology, genetics, and treatment. In:Harris H, Hirshchorn K, eds. Advances in Human Genetics. New York, NY: Plenum Press; 1993:377-441.

3. National Library of Medicine. Medical encyclopaedia: Gaucher disease. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000564.htm. Accessed May, 2015.

Gaucher Registry

For more than a decade, 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 ยป