Family Testing

Gaucher disease is an inherited, genetic disorder. All humans carry two copies of the gene for glucocerebrosidase on chromosome 1. When a person has a mutation in one of their genes for glucocerebrosidase, they are a carrier for Gaucher disease. Carriers do not have disease symptoms, but they may pass the mutation to their children. When a child inherits two malfunctioning genes (‘mutations’), one from their father and one from their mother, he/she will have Gaucher disease. (For more details on genetics and how Gaucher is inherited, go to the Gaucher and Heredity section of this website.)

Because Gaucher disease is an inherited disorder, knowledge of a history of Gaucher disease in the family is an important diagnostic tool for the physician. All close relatives of people with Gaucher disease are at risk of having the disease or of being potential carriers of the “Gaucher gene.” In addition to being tested for the disease (using an enzyme activity blood test), it is also important for family members to have further testing (genetic, DNA or mutation testing, genotyping) to determine the particular gene mutations that are present. Knowing the mutations or genotype makes carrier testing for other family members easier and in rare cases, the genotype may clarify the type of Gaucher disease present in the family.

If both parents are carriers, there is a 1 in 4 chance with each pregnancy of having a child affected with Gaucher disease. Prenatal testing, including gene testing and enzyme analysis, in most cases can determine the presence or absence of Gaucher disease in a pregnancy.

In people of Ashkenazi Jewish origin, the frequency of Gaucher disease and the chance of being a Gaucher gene carrier is many times increased. People with this background who are planning to marry or start a family may want to consider genetic testing to find out if they carry the “Gaucher gene.” Knowledge of carrier status can affect reproductive choices and influence decisions about additional family testing and counseling.

Did You Know?

Gaucher disease was first described in 1882 by French physician, Philippe Charles Ernest Gaucher, after he evaluated a deceased 32-year-old woman with an enlarged spleen, one of the disorder's distinguishing signs.

Gaucher Registry

For more than two decades, 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 »