Gaucher disease is inherited through an autosomal recessive pattern. It occurs when an individual inherits pathogenic GBA1 gene variant from each parent.1,2 When both parents are carriers of the Gaucher gene, the disease can be passed down to their children in the following way:1
Both Parents must carry the pathogenic variant to have an affected child, and MALES AND FEMALES are AFFECTED EQUALLY
Because of the inheritance patterns associated with Gaucher disease, family screening is important to identify at-risk family members.3
Labs across the United States offer diagnostic tests for Gaucher disease type 1, and some provide the service free of charge. Download list to see some options available to your patients.
Some of the laboratories offering diagnostic testing for Gaucher disease are listed below. There may be other diagnostic testing appropriate for your patient, and this is not an endorsement of any specific lab. Other testing options can be found at www.concertgenetics.com or www.ncbi.nlm.nih.gov/gtr.
Consult each laboratory for a full range of options. Content is current at time of publication, and tests may not be available in all states; please call laboratory to confirm test availability, sample shipping information, and all other logistics. Sanofi Genzyme does not review or control the content of non-Sanofi Genzyme websites. This listing does not constitute an endorsement by Sanofi Genzyme of information provided by any other organizations.
The most common disease-causing variant among Ashkenazi Jews is N370S. The majority of patients with this homozygous variant are asymptomatic5 These patients can experience adult-onset disease and a disproportionate burden of progressive skeletal disease, without major visceral or hematologic involvement.7
References:
1. National Organization for Rare Disorders. Gaucher Disease. Danbury, CT. https://rarediseases.org/rare-diseases/gaucher-disease. Published January 2006. Accessed October 30, 2020.
2. 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.
3. Pastores GM, Hughes DA. Gaucher disease. GeneReviews®. Seattle WA: NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK1269/?report=printable. Published July 27, 2000. Updated June 21, 2018. Accessed October 30, 2020.
4. Weinreb NJ. Pathophysiology, clinical features, and natural history of Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6) Suppl 8:3-6
5. Memorial Sloan Kettering Cancer Center. More Ashkenazi Jews have gene defect that raises inherited breast cancer risk. The Oncologist News Bulletin. 1996;1:335
6. 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.
7. Lachmann RH, Grant IR, Halsall D, et al. Twin pairs showing discordance of phenotype in adult Gaucher’s disease. Q J Med. 2004;97(4):199-204.
