Who should be tested

Physicians may consider testing for Gaucher disease when associated signs and symptoms are present and are unexplained by other causes. Testing may also be considered for family members of individuals with Gaucher disease.

Testing for Gaucher disease

A definitive diagnosis of Gaucher disease can be made using a blood test (also called an assay) that measures the activity level of the enzyme glucocerebrosidase. In healthy individuals, the test shows normal enzyme activity in white blood cells. In individuals with Gaucher disease, the enzyme activity is much lower.

The blood sample can be taken in the doctor’s office, and is usually sent to a specialised medical centre for analysis.

Other tests

A physician may also recommend the following tests to aid diagnosis and treatment:

• Blood tests that can show a variety of abnormalities such as low red blood cell counts or low platelet counts
• X-rays, magnetic resonance imaging (MRI), or computerised tomography (CT or "CAT" scans), to show abnormalities in bone
• Magnetic resonance imaging (MRI) or computed tomography (CT) scans to measure the liver or spleen
• Quality of life assessments
• Special tests to evaluate possible effects on the brain and nervous system

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Genzyme Australiasia Pty Ltd

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