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 in
your blood and a DNA test (genotyping) to check which mutation of the gene you have.1,2
In order to diagnose and evaluate Gaucher disease, a number of medical professionals with different specialisms 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
- Special blood tests for biochemical markers to evaluate disease burden
- Assessment of organ volumes and bone structure, using magnetic resonance imaging (MRI) and computed tomography (CT)
- Liver function tests and possibly tests for iron levels and vitamin B12
- Mignot C, et al. Chapter 175: Gaucher disease. In: Dulac O, et al., editors. Handbook of Clinical Neurology, vol 113 (3rd series). Elsevier; 2013.
- Nagral A. Gaucher disease. J Clin Exp Hepatol 2014;4(1):37–50.
- Motta I, et al. A multicentre observational study for early diagnosis of Gaucher disease in patients with splenomegaly and/or thrombocytopenia. Eur J Haematol 2016;96:352–359.
The information on this website is intended only to provide knowledge of Gaucher disease health topics. This information should not be used in place of advice from your GP or other healthcare professional. If in doubt please contact your doctor for advice.
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