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You are here : 3-RX.com > Medical Encyclopedia > Diseases and Conditions > Gaucher Disease: Diagnosis & Tests
      Category : Health Centers > Genetics and Birth Defects

Gaucher Disease

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

Gaucher Disease | Symptoms & Signs | Diagnosis & Tests | Prevention & Expectations | Treatment & Monitoring

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.


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Gaucher Disease: Symptoms & Signs

 

Gaucher Disease: Prevention & Expectations

Author: Adam Brochert, MD
Reviewer: Ronald Jorgenson, DDS, PhD, FACMG
Date Reviewed: 04/23/01



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