RecipeForDisaster Posted October 6, 2020 Report Share Posted October 6, 2020 I saw a geneticist who found a previously undiscovered variant on my IKBKSP/ELP1 gene. He recommended I have complete sequencing done but didn’t say where I could get it done, or even answer me when I asked. Has anyone had this done or had a variant on this gene? It’s associated with familial dysautonomia which seems more and more likely the more my mom complains about suspicious symptoms (she doesn’t know I have any of them myself - I do not mention my health). I found a couple of places on the Internet, but am not sure about randomly picking a place... Quote Link to comment Share on other sites More sharing options...
Guest KiminOrlando Posted October 6, 2020 Report Share Posted October 6, 2020 Is this the familial dysautonomia linked to people of Mediterranean descent or a different kind? Quote Link to comment Share on other sites More sharing options...
RecipeForDisaster Posted October 7, 2020 Author Report Share Posted October 7, 2020 I think it’s Eastern European Jews, which I do have on one side... but I’m not positive. Quote Link to comment Share on other sites More sharing options...
Guest KiminOrlando Posted October 7, 2020 Report Share Posted October 7, 2020 My primary care physician actually knew what this was when I first went to him. I was impressed. This is how I finally got on the road to diagnosis. I was negative for this, but he knew what it was. Hope this revelation helps you and your family. Quote Link to comment Share on other sites More sharing options...
RecipeForDisaster Posted October 7, 2020 Author Report Share Posted October 7, 2020 Wow, that is impressive! I have not gotten anywhere with finding a company to "fully sequence" it. I don’t have the usual mutation associated with familial dysautonomia, but I do have the variant on it. Quote Link to comment Share on other sites More sharing options...
Guest KiminOrlando Posted October 7, 2020 Report Share Posted October 7, 2020 My PCP is Jewish, so he has a special interest in this. I got VERY lucky. Quote Link to comment Share on other sites More sharing options...
DebGrace Posted October 12, 2020 Report Share Posted October 12, 2020 BaylorGenetics and GeneDX both do gene sequencing. In the US, generally what you’ll get is a WES, Whole Exome Sequencing, and there is a ton of paperwork a geneticist must go through to get it approved because it is very expensive, however the price comes down the more the science improves. One word of warning, you need a super skilled person to interpret it, if you get a run of the mill genetic counselor that reads the report only and does no additional research into causative genes it can frustrating to get any further necessary testing. The test is only as good as the person who orders and interprets it. Plus all the warnings about getting your results released to you... Quote Link to comment Share on other sites More sharing options...
Pistol Posted October 12, 2020 Report Share Posted October 12, 2020 On 10/7/2020 at 3:15 AM, RecipeForDisaster said: I think it’s Eastern European Jews, which I do have on one side... but I’m not positive Interesting - I am born in Germany and my family has Eastern european heritage, we fit the jewish body description ... and HPOTS runs in 3 generations of the women in my family. I have applied for a study through Mayo that tests DNA for HPOTS ( currently on hold due to COVID ) --- we are all diagnosed with genetic dysautonomia, I wonder if it is that gene you are talking about .. Quote Link to comment Share on other sites More sharing options...
RecipeForDisaster Posted October 14, 2020 Author Report Share Posted October 14, 2020 Interesting! I found a company (Prevention Genetics) that will do it for about $600. I’m not sure if any is covered my insurance. I have a geneticist who is brilliant and knows these genes, but hasn’t been answering me. This was going to be just this specific area, for familial dysautonomia, not the whole exome. I’d be willing to do that if someone was interested. Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You can post now and register later. If you have an account, sign in now to post with your account.