References
Throughout the Health Care Profesional section of this website, there references to various publications. For additional information on these publications, you may visit
PubMed or contact Genzyme Medical Information at 800-749-4447 option 2 (U.S. only) to request a copy of an article.
Diagnosis and Testing
Doctors diagnose Gaucher disease by using a simple blood test called an enzyme assay. The assay for Gaucher disease measures activity levels of the enzyme glucocerebrosidase in white blood cells or skin cells. Individuals who are affected with Gaucher disease will have very low levels of enzyme activity. However, the assay cannot determine disease severity. Learn more in Diagnosing and Testing »
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 »