How to make a diagnosis

Biochemical testing is always required to confirm diagnosis when there is clinical suspicion of Gaucher disease.

The standard diagnostic test is measurement of acid β-glucosidase in peripheral blood leukocytes. You can learn more about the diagnostic tests here.

This section describes diagnostic algorithms that can be followed when clinical suspicion of Gaucher disease is raised, to arrive at an accurate diagnosis in a timely manner. Information on the differential diagnosis of Gaucher disease and common misdiagnoses can also be found in this section, as well as a simple and effective screening approach for Gaucher disease among selected patient populations (Cappellini protocol).