Gaucher disease is a genetic disorder inherited as an autosomal recessive trait, which means that it can occur with equal frequency in both males and females, and both parents must carry the mutation for the child to have the disease. If both parents are carriers, then there is a 1 in 4 chance that the child will have Gaucher disease, a 1 in 2 chance that the child will not have the disease but will be a carrier, and a 1 in 4 chance that the child will neither have the disease nor be a carrier.

• The simplest way to diagnose Gaucher disease is to measure levels of the enzyme glucocerebrosidase in the blood.
• Genetic carrier status: people with Gaucher disease, or those who have a family history of Gaucher disease, may be tested for the genes linked to the condition.

Please consult your physician or pharmacist for further information.