← Return to Can't get a definitive diagnosis

Discussion

Can't get a definitive diagnosis

Autoimmune Diseases | Last Active: Dec 4, 2021 | Replies (27)

Comment receiving replies
@oldkarl

@linda2114 Hi, migizi. Her question to me: "Since you suggested these sites, have you used them and what value have you found from them, if you did utilize one of the sites? Thanks for your help, if this is possible." Answer: Yes, I have used several of them. I have log-ins for: (1) Ambrygen.com [Great and inexpensive-place to start. Quick turnaround for either of their two special packages, with very accurate statements in their response.] (2) AncestryDNA[well done for ancestry work and basic genetics-but not certified clinical grade ] (3) Sequencing.com (well rounded, and great simple apps to start with. Several choices of plans and services. I like the Genome Explorer app for its ability to sort and lead. Also, the Genome Overview produces massive amounts of pertinent info for highly detailed work.) (4) Human Phenotype Ontology (hpo.jax.org) from Jackson Labs tells you what gene or protein of other marker, and what it does to your body, mind and spirit if the subject gene, etc., is active. Excellent way to get at the truth. (5) http://www.omim.org- Online Mendelian Inheritance M......) I use it almost every day. You list a gene, sign, symptom, protein, etc., and it gives much info about that and about other markers. (6) ENSEMBL.org, Rather technical description, but very accurate. (7) Wikipedia, enter a gene, etc., and usually you will get comprehensive overview of its action. I have used all of these, and depending on what I am searching for, I usually start with the Genome Explorer from Sequencing.com, then OMIM.org, then HPO, etc. I started with Ambrygen.com. There is also Apollo (not used yet). NBCI (NIH, etc.) as a wonderful federal gov service. Many universities have great services. Harvard, Columbia, U of Washington, etc. I hope this helps you and others who face the frustrations of inaccurate or non-existent diagnoses. My guess is that fewer than 10% of American physicians know the meaning of the word "benign" in genetic work. (it means that this gene is unlikely to mutate into something else. It does NOT mean it can or will do no harm.) I have seen about 15 MDs in the last 2 years, and asked them the same question. Only one, a geneticist, knew the correct answer. All the rest answered "it can or will do no harm". Have fun, and get to know these sites well, as they can change your life. And for most of them, about $500 should max out your genetic analysis needs for life. Many are free or incredibly inexpensive, such as Ambry, HPO, ENSEMBL, OMIM, Selah!

Jump to this post


Replies to "@linda2114 Hi, migizi. Her question to me: "Since you suggested these sites, have you used them..."

@migizii….thank you so much for this information! I’m am a bit confused by the depth of all the information; so, if I did a comprehensive genetic analysis at sequencing.com….do you think that would be a good place to start? I am in the 🐇 hole at Mayo, Rochester right now and so far, tests are revealing glowing results of good health in spite of a 10lb weight loss on my already petite frame. Idk what might help but I’m willing to consider alternatives. Thanks again so much!