Diagnostic Testing FAQs

Who should be tested for Gaucher disease?

Those who have a known familial history of Gaucher disease, particularly siblings; those who are of Eastern European, Ashkenazi, Jewish descent who manifest symptoms of the disease and those within the general population who exhibit symptoms.

How is diagnostic testing for Gaucher disease performed?

Enzyme analysis is performed in individuals suspected of having the disease as well as those who have a familial history of the disease. While enzyme testing is offered as a standalone test, it is strongly recommended that clients opt for both enzyme testing and DNA sequencing.

If my patient is diagnosed as being affected by Gaucher disease, what treatments are available?

Treatments for type 1 include enzyme replacement therapy and substrate reduction therapy. Gaucher Disease Treatment | National Gaucher Foundation


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