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.


  1. 1.Motta I, Filocamo M, Poggiali E, et al. (2015) A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia. Eur J Haematol 96(4): 352-359.