Testing for Gaucher Disease

Suspect Gaucher Disease? Test to know

  • β-glucosidase enzyme assay is the standard, recommended method for establishing a confirmatory diagnosis of Gaucher disease, which is demonstrated by deficiency of β-glucosidase activity.3,6,7
  • Molecular testing (DNA testing) can be used to confirm the type of Gaucher disease as well as carrier status.3,6
These other testing methods are typically not necessary for diagnosis
  • Demonstration of two pathogenic alleles in the GBA gene can provide additional diagnostic confirmation, but is not generally used for diagnosis in lieu of biochemical testing6
  • Bone marrow biopsy is not recommended to diagnose Gaucher disease because although bone marrow biopsy specimens can rule out hematologic malignancies, they are not reliable for establishing the presence of Gaucher cells3

Testing for Gaucher disease is available nationwide, and some laboratories provide the service free of charge.

Find a laboratory now

For more information, please contact Sanofi Genzyme Medical Information from 8 AM through 6 PM EST, Monday through Friday, at 1-800-745-4447, Option 2.

*It is recommended that the physician’s office first establish which lab will be used, then draw the blood sample according to laboratory requirements noted below. The sample collection time period and storing of samples may vary across labs. The general turnaround time for results may vary, but is usually 7-10 days. Please contact the lab directly for specific information regarding sample collection, storage, and results.

†This list of testing programs and/or laboratories is provided for information use only. It should not be considered a recommendation or endorsement of any company, test, or service.

Physicians are directed to contact the individual testing programs and/or laboratories for information on obtaining test requisitions, sample requirements, turnaround time, and the specific details of the services provided.

For commercial lab testing, appropriate coding and obtaining reimbursement are the responsibility of the provider submitting a claim for the item of service.

Starting treatment

Gaucher disease type 1 can be effectively managed.5


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References: 1. Mehta A, Belmatoug N, Bembi B, et al. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. Mol Gen Metab. 2017;122(3):122-129. 2. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists–oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007;82(8):697-701. 3. Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115. 4. Weinreb NJ, Rosenbloom BE. Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly. Open Journal of Genetics. 2013;3:24-43. 5. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):ii, E441. 6. Pastores GM, Hughes DA. Gaucher disease. GeneReviews®. Seattle WA: NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK1269/?report=printable. Accessed Published 27, 2000. Updated June 21, 2018. Accessed July 2, 2018.