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


  1. Mignot C, et al. Chapter 175: Gaucher disease. In: Dulac O, et al., editors. Handbook of Clinical Neurology, vol 113 (3rd series). Elsevier; 2013.
  2. Nagral A. Gaucher disease. J Clin Exp Hepatol 2014;4(1):37-50.
  3. 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.
Brian (Carer): "When I met Elaine she was fit, full of life … and then when we got to know each other she eventually turned around to me and said, amongst other things ‘Oh, by the way, I’ve got Gaucher disease’. It was like ‘What? Wait, what is Gaucher disease?."
Virginia (Patient): "My first Gaucher symptoms were an enlarged liver and spleen, low platelet levels and a slow growth and development."
Elaine (Patient): "By the age of about 4 or 5, I was showing the classic signs of Gaucher disease: a very pronounced tummy, very pale skin, my limbs were very thin and I would bruise very easily."
Ivana (Patient): "Doctors from my city hospital, they did not know what was happening. They hadn’t even heard of Gaucher disease."
Virginia (Patient): “It took a little bit over a year between my initial symptoms and my Gaucher diagnosis. I was eight years old when the symptoms first started.”
Virginia (Patient): “I find myself very fortunate to have been diagnosed at such an early age, and also being able to get my treatment right away. Because now I feel really healthy and live a full life.”
Virginia (Patient): “I think Gaucher disease as a whole has made my whole family more close together. We have connected in a way that, I don't know if other families do.”
Elaine (Patient): “It’s of great value having a brother to talk to that understands totally what I’m going though.”
Brian (Carer): “As a caregiver and a husband, I do what I think is natural and the right thing to do, which is just support, love, have fun and handle whatever comes along.”
Ivana (Patient): “The support from my family is the most important for me.”
Gustavo (Patient): “When I was diagnosed with Gaucher disease, I felt alone at the beginning. When a person is diagnosed with Gaucher disease I advise that they don’t feel alone because there are a lot of people with Gaucher.”
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Watch a brief video about the cause of Gaucher disease.
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In this video Gaucher disease patients discuss how they were diagnosed.
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How is Gaucher disease diagnosed?
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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. is intended for an International and US audience and has been produced by Shire. The website has been developed in accordance with industry and legal standards to provide information for the general public about Hunter Syndrome health topics. Shire makes every reasonable effort to include accurate and current information. However, the information provided on the website is not exhaustive.

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