Gaucher Disease Testing

What is Gaucher Disease?

Gaucher disease is an inherited, autosomal recessive lysosomal storage disease with phenotypic heterogeneity and overlap.1 Gaucher disease results from genetic mutations encoded in the GBA gene that cause a deficiency of the lysosomal enzyme glucocerebrosidase, which leads to widespread accumulation of macrophages engorged with lysosomal material.2 Macrophage accumulation with glucosylceramide (GL1) and glucosylsphingosine (Lyso-GL1) results in Gaucher cells (or foamy macrophages) that have a 'wrinkled tissue paper' appearance.2

Gaucher disease encompasses a spectrum from asymptomatic to peri-natal lethal disease. It includes three major clinical types (Types 1, 2 and 3) and two clinical forms (perinatal-lethal and cardiovascular). These characterizations are useful in determining prognosis and management. Type 1 is the most common form of Gaucher disease and is characterized by:3,4

  • Hepatosplenomegaly
  • The presence of clinical or radiographic evidence of bone disease (focal lytic or sclerotic lesions, osteopenia, and osteonecrosis)
  • Lung disease
  • Anemia and thrombocytopenia
  • The absence of primary central nervous system disease.

What is the Prevalence of Gaucher Disease?

Gaucher disease is one of the more common lysosomal disorders. It has a general worldwide population prevalence of 1:50,000-100,000 for Gaucher disease Type 1 (non-neuropathic), and approximately 1:850 in the Ashkenazi Jewish population.2,4

The Roadmap2Rare Diagnostic Program Eligibility

This rare disease testing program is designed for HCPs with eligible patients when there is clinical suspicion of Gaucher disease. The program includes single disorder testing for Gaucher (glucocerebrosidase enzyme assay with reflex to GBA sequencing and Lyso-GL1 analysis if deficient). Gaucher testing will include parallel testing for acid sphingomyelinase deficiency (ASMD). 

*Note: this diagnostic program is not appropriate for carrier testing.

What is the Gaucher Disease test?

For single disorder testing, the algorithm is as follows:

  1. Glucocerebrosidase enzyme is assayed in parallel with acid sphingomyelinase enzyme
  2. If enzyme levels are found to be deficient, GBA sequencing and Lyso-GL1 analysis (or SMPD1 sequencing as relevant) is performed

In the event that sequencing or enzyme assay activity testing has been performed previously, individual tests can be ordered.


  1. Weinreb NJ, et al. Mol Genet Metab. 2022;136(1):4–21.
  2. Baris HN, et al. Pediatr Endocrinol Rev. 2014;12:72–81.
  3. Hughes DA, Pastores GM. Gaucher Disease. 2000 Jul 27 [updated  2023 Dec 7]. In: Adam MP, et al. editors. GeneReviews® _[Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. Available from:
  4. Mistry PK, et al. Am J Hematol. 2011;86(1):110–5.

The Roadmap2Rare Diagnostic Program is not intended to and should not interfere in any way with a clinician’s or patient’s independent judgment and freedom of choice in the testing and treatment options for these diseases. Clinicians and patients should always consider the full range of testing and treatment options and select those most appropriate for the individual patient. The identifying information of patients and clinicians is not shared with Sanofi Canada.