Take our online questionnaire to find out if genetic counseling is appropriate for you.

< Back to disease list

Gaucher Disease

Gaucher disease is an inherited syndrome that affects many of the body's organs and tissues.  It is very variable, with some people having severe disease, while others have such a mild form that they don't realize they have the condition. Carriers of this condition have no symptoms themselves but are at risk to have a child with Gaucher disease. Your risk of being a carrier depends on your family history and ethnicity.

Symptoms

• Bone problems
• Enlarged liver and spleen
• Lung problems
• Anemia

Causes/Risk Factors

• Family history of Gaucher disease
• Ashkenazi (Eastern European) Jewish ancestry
  

Genetic Test/Carrier Screen

The following genetic tests may be appropriate based on your personal and/or family history.

• Carrier testing for parents
  
  • Blood draw for GBA genetic testing
• Prenatal testing
  
  • Amniocentesis
  • Chorionic Villus Sampling (CVS)

See our pre-conception and prenatal services

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Learn More

Gauchers Association

National Gaucher Foundation (NGF)

National Library of Medicine Genetics Home Reference