I used a kit from MyHeritage and got raw data for supposedly my whole DNA. Recently I read about a syndrome that I suspect I could have. However, there’s no clinic in my country where it can be diagnosed; on the other hand there’s a gene that is present in up to 90% of the cases. So I wonder whether there are websites where we can upload raw genetic data, select a disease, and see the results?
My family used Invitae to test for our rare heart disease variant. You did not specify what you were looking for (and you do not have to). I don’t know if they can help you but it is one place to look.
In this case you do not upload raw data, they require this to be ordered via a doctor because counseling/someone to ask questions is often a good idea with dealing with these issues.
^^my younger sister (half sister) just did that.
My cardiologist had me tested by Invitae, also for genes related to heart disease. In my case they already knew what I have; they were just trying to sort out the relevant genetics, and asked me to be tested so as to add to the database, and also so that if they found anything already known to be associated they could say what some of my relatives might want to be tested for. They didn’t find any of the gene variants already known to be associated. I was supposed to check back in a couple of years, and probably ought to try to get around to that next winter.
Thanks guys. From invitae site, it looks like I’d have to pay for something before getting an answer; there’s no place to “upload raw data and check”. Anyway, I’ve sent them an email to ask for price.
Maybe sharing the specific disease of concern could help in the search. I want to check the FBN1 gene, responsible for Marfan syndrome. My symptoms are not convincing enough when compared to the literature, but a significant risk of sudden death from ruptured aorta is something that I think can’t be ignored.