Genetic Counseling

Because Gaucher disease is a genetic disorder, all first-degree relatives of people with Gaucher disease are at risk of having the disease or of being potential carriers of the “Gaucher gene.” Families with a history of Gaucher disease may want to discuss the possibility of genetic testing with their physicians.

Carrier status can be determined by analyzing a person’s DNA, which can be extracted from a blood sample. Prenatal testing for Gaucher disease in a fetus is also available early in pregnancy. Genetic counseling is available to couples who are found to be carriers or who have a family history of Gaucher disease.

For more information about genetic counseling, visit the website of the U.S. National Society of Genetic Counselors or contact your local clinical genetics center.

Gaucher Registry

For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry ยป