Genetic testing

DNA analysis of a blood sample can determine who carries the mutated Gaucher gene. People at risk of being carriers may want to consider genetic counselling and family DNA testing. Individuals at risk include: relatives of Gaucher disease patients, persons of Ashkenazi Jewish descent, and symptomatic individuals.

Family history is significant

Gaucher disease is inherited. It is caused when someone inherits a mutated, or abnormal, gene from both parents. When a doctor is informed of any family history of Gaucher disease, he or she can examine the patient for signs and symptoms, order the appropriate tests, or make a referral to appropriate specialists.

Genetic testing and counselling

Blood tests are available to detect the presence of the mutated Gaucher gene. Interested couples at high risk of carrying Gaucher disease may use such a test to determine their specific likelihood of having a child affected by Gaucher disease. Genetic counselling for families with Gaucher disease may help affected individuals address the complex social and reproductive issues they may face.

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Genzyme Australiasia Pty Ltd

Level 1, Building C,
12-24 Talavera Road
North Ryde NSW 2113
P: 612 9978 3900
F: 612 9889 3900

Mailing Address:
PO Box 282
North Ryde B/C NSW 1670