Diagnostic Testing for Huntington's Disease

Diagnostic testing is very similar to the process most of us are used to when visiting a doctor. We have a symptom that's bothering us and want to know what's causing it. Whether or not we have a family history of Huntington's disease, we may nevertheless show up at the doctor's office with symptoms typically associated with HD. 

If our symptoms and/or our family medical history causes the doctor to suspect HD, a diagnostic blood test will be ordered to determine whether we have HD or to rule it out. The result will be the number of CAG repeats in the HD genes.

If the number of CAG repeats is in the normal range, HD can definitely be ruled out. If the number is in the intermediate range, we are not likely at risk for ourselves, but there is a chance that our children could be affected. And if the number is high, then we are sure to develop symptoms of HD at some point during our lives.

For more information about HD genetics and the significance of CAG repeat numbers, please see the following pages:

• Genetics Overview
• The Huntington Gene
• Testing Issues in Huntington's Disease
• Pre-symptomatic testing
• Reproductive Options in HD
• Genetic Testing Insurance Issues