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.

Symptoms Infographic

In order to arrive at a definitive diagnosis a number of medical professionals with different specialisms are likely to be involved and you can expect to be asked to undergo a series of tests and scans. These may include:1,2

  • 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
  • Liver function tests and possibly tests for iron levels and vitamin B12
  • Magnetic resonance imaging (MRI) to investigate potential changes in the organs and bones caused by Gaucher cells
  • Computed tomography (CT) scan to investigate potential changes in the organs and bones
  • Scans to check on bone density

How is Gaucher disease treated?

1. Mignot C, et al. handb Clin Neurol. 2013;113:1709-15..
2. Nagral A. Gaucher disease. J Clin exp hepatol 2014;4(1):37-50.
This leaflet hopes to answer questions about the inheritance of Gaucher disease.
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Watch a brief video about the causes of Gaucher disease.
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In this video Gaucher disease patients discuss how they were diagnosed.
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What are Lysosomal Storage Disorders?
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Visit the Spotlight on Gaucher YouTube channel to view Gaucher disease informational videos and stories from patients and families.
How is Gaucher disease diagnosed?
Symptoms Infographic
Symptoms Infographic
Download the Gaucher disease brochure for helpful information.

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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Download the Gaucher disease toolkit for helpful information and questions to discuss with your doctor.
Symptoms Infographic