How is Gaucher disease diagnosed?

To diagnose Gaucher disease properly, a healthcare professional will need to carry out a number of tests – including checking the level of the glucocerebrosidase enzyme (GBA) in your blood and a DNA test (genotyping) to check which mutation of the GBA gene you have1,2.

Once a doctor suspects someone might have Gaucher disease, they will take a blood sample so they can investigate further.1,2

This sample can be as little as a few drops of blood, which are allowed to dry on a card. This is called dried blood spot, or DBS testing.3

The blood sample is sent to a laboratory, where a test is performed to determine the activity of GBA. If the level of activity is low, it might indicate that the person has Gaucher disease.1

The blood sample may also be sent for DNA analysis. This can identify specific mutations in the GBA gene, and therefore confirm the diagnosis of Gaucher disease.2

In order to diagnose and evaluate Gaucher disease, a number of medical professionals with different specialties are likely to be involved. You can expect to be asked to undergo a series of tests and scans. These may include:2

Routine blood tests to measure levels of platelets and red blood cells and to evaluate your overall health status. Samples of your blood will be sent to a specialist laboratory for analysis.2

Special blood tests for biochemical markers to evaluate disease burden.2

Assessment of organ volumes and bone structure, using magnetic resonance imaging (MRI) and computed tomography (CT).2

Liver function tests and possibly tests for iron levels and vitamin B12.2