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DiscussionPeripheral Neuropathy? Family history? Don't wait!
Neuropathy | Last Active: Jul 4, 2023 | Replies (34)Comment receiving replies
Replies to "Good morning! I'm only loosely familiar with DNA testing. Friends have had it done for a..."
I live in a progressive town with an Institute for Biotechnology. I was able to have genomic testing done for specific “rare” (or not so rare) diseases, since my sister shared a lot of my symptoms, and my Dad and Granddad some of them. Nothing turned up, but they assured me that I could get a phone call in several years, as new genomes are discovered. Then my sister could be tested, and my younger son, who is starting to have some pain, etc could also be tested. It involves bloodwork, not just a cheek swab or hair sample.
Ray - I think they can test enough to see if a marked in me could be out of whack to show the chance of it being genetic. Having a surviving blood relative submit would add value to predict family risk. Heck, they can narrow down to paternal vs maternal if they found something. The main question is whether other family members want to know, and pass knowledge or testing needs to other generations…
I had genetic testing for the neuropathy and it was inconclusive. My father always thought it was Charcot Marie tooth but it did not show up in my testing.
Hi Ray - Barb in Iowa here. I did the 23andMe a couple of years ago because I was curious about the results of that same test that my married granddaughter took a couple of months prior (wondered if a particular one of her results would also show up on mine, and it did, answering a long-held question that I had no relatives in my generation to ask). The test doesn't really ascertain diseases or conditions as far as probable diagnoses but will state possible susceptibilities that may exist based on what some chromosomes present. They are very good about updating you as to new potential relatives, since they are constantly receiving new test inquiries. Names may or may not be supplied - sometimes just initials, depending upon what that person gave permission to share. Everything is kept very confidential - you alone determine what you wish to make known within the database. They also update you as to medical trends that may pertain to your DNA as they receive results from others who share same. And every so often they e-mail you asking you to complete a questionnaire regarding similar questions you answered when you originally took the test. Of course you are free to ignore the questionnaires. My granddaughter has completed none, as she has no spare time, but I have probably completed about 75% of them because I know the answers help in their research, and I do have the time! By the way, my college age grandson, brother to said granddaughter, took the test a few months ago and his results confirmed ours. I have enjoyed this process.