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Diagnosis of Gaucher disease should be confirmed with a thorough clinical evaluation (clinical history and physical examination), measurement of beta-glucosidase enzyme activity, and genetic testing.1,2

The age at which patients present with Gaucher disease ranges from early childhood to adulthood and can be related to the rate of substrate accumulation and presentation severity.3 Some states also offer genetic testing to screen newborn babies for Gaucher disease.4

Prompt diagnosis is essential because the disease is progressive.5

Monitoring & Management
Doctor high-fiving young patient with her mother

Testing for type 1 Gaucher disease

Gaucher disease can be confirmed with:6

An enzyme assay to determine levels of beta-glucosidase enzyme activity, and genetic testing to identify mutations that cause the disease.

A bone marrow biopsy/smear can detect Gaucher cells, but it is not recommended to diagnose Gaucher disease.6

Doctor running a test

Beta-glucosidase enzyme assay

The beta-glucosidase enzyme assay measures the levels of the enzyme glucocerebrosidase. The test requires a sample of the patient’s blood (and can be in the form of either whole blood or a dried blood spot). Low levels of this enzyme indicate a diagnosis of Gaucher disease. Enzyme activity, however, does not predict disease severity.5-7

Genetic testing

Diagnostic genetic testing

Genetic testing requires a sample of either blood or saliva from the patient to obtain their DNA. Genetic sequencing can detect specific mutations in the GBA1 gene, resulting in Gaucher disease.2,6,8

Carrier screening

Genetic testing can also be used to identify carriers of Gaucher disease. While carriers do not experience symptoms of Gaucher disease, it is important that they are identified because Gaucher disease is a hereditary condition.

Carrier screening for mutations commonly associated with Gaucher disease is recommended for Ashkenazi Jewish people and other individuals who are at high risk for the disease.

Doctor running a test

Diagnosis and testing algorithm

This algorithm* provides information to assist in the differential diagnosis of type 1 Gaucher disease in patients with unexplained splenomegaly and/or thrombocytopenia.

This algorithm is not intended to be a diagnostic tool. It does not replace the need for a complete evaluation of the patient by a healthcare professional.

*The algorithm has been synthesized from two publications on type 1 Gaucher disease diagnosis: ‘Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms’ and ‘Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.' 9,10

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