Genetic Inheritance & Testing

Gaucher disease is an inherited disorder that is recessive; only individuals who possess two mutated genes, one from each parent, will have the active disease.  People with only one defective gene are called carriers; although they will never exhibit symptoms of the disease, they can pass the altered gene to their children.  When both parents are carriers, there is a 25% chance that any child they have will be affected by Gaucher disease.

Type I Gaucher disease is more prevalent among people of Ashkenazi Jewish (Eastern European) decent, affecting as many as 1 in 450 individuals versus 1 in 40,000-60,000 in the general population.  1 in 12 Ashkenazi Jews may be a carrier of Gaucher.

Gaucher disease can be diagnosed by having a simple blood test. This testing can be performed by a Gaucher specialist, at a hospital, or by your own physician. Once the blood sample is drawn, it must be sent to a special laboratory for analysis.

A Gaucher disease testing kit may be obtained by calling the Genzyme Genetics Client Services Department at (800) 848-4436.  Alternatively, you may visit the following website for a list of additional testing laboratories: www.genetests.org.

Other information regarding testing can be found through the National Gaucher Foundation website at www.gaucherdisease.org