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Thursday, April 17, 2014
Having the Gene
If I have been tested and found that I have the gene for Huntington`s Disease, does this necessarily mean it will develop into having the disease?
If a genetic test result is reported as positive, it means that the individual with the positive test result wil eventually begin to show signs of Huntington's disease. There is a very rough correlation of the reported size of the CAG trinucleotide repeat size on the affected HD gene and the age of symptom onset. However, the age of symptom onset varies a lot from person to person, even with the same repeat size, and can differ by up to 40 years depending on other factors likely to include other genes and environmental factors and health habits.
If you would like to discuss the implications of a positive test result in more detail, you may want to contact an HD genentics counsellor.
Sandra K Kostyk, MD, PhD
Assistant Professor of Neuroscience
Clinical Assistant Professor of Neurology
College of Medicine
The Ohio State University