Do I have to wait until I get signs to test?
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Q. My grandfather, aunt, uncle, father and sister all have tested positive, or show major signs of it, I’m not worried about the percentage rate, or the chances that I have it, I just would like to know, being 24, would I be able to get tested just to see if I have it, or do I have to wait till signs are present? What type of doctor should I be looking for to do the tests? Thank you
Albert, Young Adult, USA
A. Dear Albert,
Many thanks for your question. The short answer is yes - if HD has been confirmed in your family, a genetic blood test would be able to determine whether or not you also carry the HD gene expansion.
For individuals without symptoms, this type of test is known as a ‘predictive’ (or ‘presymptomatic’) genetic test. It is important that you have the opportunity to ask any questions and to discuss the pros and cons of testing in detail before going ahead. Therefore, the predictive testing process usually involves a number of appointments, to give you plenty of time to cover this. Many people who are at risk of HD prefer not to have a predictive test. For someone who already has signs of HD, a ‘diagnostic’ blood test is usually offered, to confirm the diagnosis.
I would recommend that you see a Genetic Counselor, who could discuss your options further with you. To find your local Genetics Centre, you may find this website helpful.
Please do not hesitate to get back in touch if you have any further questions, or if you have any difficulty accessing your local Genetics service.
Last updated: March 01, 2015 08:53