Gaucher Disease

Alternate Names : Beta-Glucosidase Deficiency, Juvenile Gaucher Disease, Infantile Gaucher Disaese

How is the disease diagnosed?

Often, a bone marrow biopsy is the first step in diagnosing Gaucher disease. The biopsy involves taking a small piece of a bone, such as the hip, with a special needle. The piece of bone is examined under a microscope. If Gaucher disease is present, it will look abnormal.

Cells taken from the person can then be tested for the abnormal gene associated with Gaucher disease. Early genetic testing of a fetus with amniocentesis can tell if an unborn child is affected.