Testing & 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.

Enzyme Assay

Enzyme Assay

Measurement of acid β-glucosidase activity, usually in peripheral blood leukocytes, is the gold standard diagnostic test for Gaucher disease.

What is DBS?

What is DBS?

Dried blood spot testing is a method of measuring acid beta glucosidase activity that is easier, faster and less expensive than the leukocyte assay.

References

  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.