Is it possible to find out if someone has the gene after they died?
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Q. My brother has received a positive gene result that he has HD. My mom is 68 years old and my dad died when he was 56 but not from any disease. I wonder if it is possible to find out after a person’s death if he or she was a gene carrier?
Annethe, Adult, Sweden
A. Dear Annethe,
Thank you for your question.
I was sorry to hear that your father died at a young age. It sounds from your email that there were no concerns that he had symptoms of HD before he died, and that his cause of death was unrelated. For individuals without symptoms, the only way to confirm whether or not they carry the HD gene expansion is by a genetic blood test. Unless a sample of DNA was stored from your father for any reason, this will not be possible.
However, even if genetic testing is not available, there may be information in your father’s medical records (for example, evidence of structural brain changes on an MR scan) that could help clarify the likelihood of whether or not he carried the HD gene expansion.
Without any testing, sometimes we can infer someone’s genetic status using family history information – for example if someone else in your father’s family had HD, we could assume he was likely to have carried it given your brother’s diagnosis. However, it is important to say that occasionally an individual with HD can be the first person in their family to carry the gene expansion, as the gene sometimes changes in size between generations.
I hope this helps to answer your question, and please do not hesitate to contact us again if you have any further questions or concerns.