Genetic Counseling

Because Gaucher disease is a genetic disorder, all close 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. Prenatal testing for Gaucher disease 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 National Society of Genetic Counselors.

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