Tests

Genetic testing to make or confirm the diagnosis of Huntington's disease has been available since 1993. A blood sample is used to analyze DNA for the Huntington's disease mutation by counting the number of CAG repeats in the gene that produces the protein Huntington. People who do not have Huntington's disease usually have 28 or fewer CAG repeats. In people who do have Huntington's disease, the CAG repeat is greater than 40. While the gene test enables people to predict if they will develop Huntington's disease, there is still no cure and no available treatment to delay, slow, stop, or reverse the progression of the disease. Counseling is important to help individuals to deal with personal, family, and ethical issues surrounding genetic testing for Huntington's disease.

Reasons for Taking the Test

• To confirm the diagnosis of Huntington's disease when symptoms are present
• To confirm if at-risk individuals carry the gene for the disease

Experience has shown that while many at-risk individuals indicate a desire to know their gene-carrier status, far fewer actually undergo testing. When confronted with the opportunity for testing, many find that the emotional toll or risks to confidentiality outweigh the benefits of learning their gene-carrier status. The decision to take a pre-symptomatic test for Huntington's disease should always be an informed, carefully considered and freely chosen personal decision. Individuals should not be coerced into testing, whether by a spouse, another family member, a physician, an insurance company or an employer. For those individuals who opt to undergo pre-symptomatic testing for Huntington disease, the medical team will make every effort to maintain the confidentiality of medical care.

Northwestern Memorial Hospital Participating Departments

Center for Genetic Medicine
Genetic Testing
Contact: Kelly Ormond, MS, CGC
676 North St. Clair Street, #1280
312-926-7466

Department of Neurology Parkinson's Disease and Movement Disorders Center
Diagnostic Evaluations
Contact: Tanya Simuni, MD
675 North St. Clair Street, Suite 20-100
312-695-7950

Neurobehavior and Memory Health Clinic
Neuropsychological Evaluations
675 North St. Clair Street, Suite 20-100
312-695-9627