About Gaucher Disease

Diagnosis

How do you test for Gaucher Disease?

Gaucher disease can now be determined by a single blood test and measuring the level of enzymes (glucocerebroside) in the blood. There is no longer the necessity for the painful bone marrow biopsies to determine the presence of Gaucher disease. In the Ashkenazi-Jewish population couples can have their carrier status clarified through a gene test, done on a blood specimen.