Testing and Screening
Biochemical demonstration of insufficient acid β-glucosidase activity confirms diagnosis of Gaucher disease.
The gold standard diagnostic test is the leukocyte enzyme assay. Dried blood spot (DBS) testing is an alternative way of measuring acid β-glucosidase activity. It is useful as a cheaper and simpler first-tier screening method for Gaucher disease.1 A DBS result indicative of Gaucher disease must always be confirmed by the standard enzyme assay.
This section describes biochemical diagnostic tests for Gaucher disease in detail.