FAQ/Help |
Calendar |
Search |
Today's Posts |
|
05-01-2017, 09:34 AM | #1 | ||
|
|||
Member
|
It seems you are as determined with your research efforts as I am in refusal to accept this garbage diagnosis. I am convinced there is a metabolic error which won't allow me to absorb nutrients -some of which are copper, iron, and iodine. I know it's genetic, and we have the EDS diagnosis, but I don't believe that it's that simple. I don't think I have defective collagen and connective tissue. I think it's a metabolic mutation.
|
||
Reply With Quote |
05-01-2017, 10:06 AM | #2 | |||
|
||||
Wisest Elder Ever
|
Quote:
Small fiber neuropathy This new poster tested positive for a DNA mutation involving familial dysautomnia and two others so far. Perhaps seeing a genetic specialist may be helpful for you too? (rather than neurologists, rheumies)
__________________
All truths are easy to understand once they are discovered; the point is to discover them.-- Galileo Galilei ************************************ . Weezie looking at petunias 8.25.2017 **************************** These forums are for mutual support and information sharing only. The forums are not a substitute for medical advice, diagnosis or treatment provided by a qualified health care provider. Always consult your doctor before trying anything you read here.
|
|||
Reply With Quote |
"Thanks for this!" says: |
05-01-2017, 10:30 PM | #3 | |||
|
||||
Member
|
Quote:
|
|||
Reply With Quote |
"Thanks for this!" says: |
05-02-2017, 08:23 AM | #4 | ||
|
|||
Member
|
Quote:
Are you looking though your whole exome test or a 23and me? |
||
Reply With Quote |
05-02-2017, 07:01 PM | #5 | |||
|
||||
Member
|
My whole exome.
As best I understand things, the only data I can see in my whole exome are the variants that have publicly available reports in ClinVar on them. ClinVar is maintained by NIH. Introduction - ClinVar - NCBI Based on the information Genos provides, the average person has millions of variants. So in the end, I'm only seeing a minuscule amount of information, but it's the only meaningful information there is. What I haven't figured out is whether there would be a way for me to see a SNP with no public information if I really wanted to. I can do that on 23andme, but I don't know if I can to that on Genos, and obviously Genos has processed a ton more of my genome. Last edited by janieg; 05-02-2017 at 07:42 PM. |
|||
Reply With Quote |
05-04-2017, 06:43 AM | #6 | ||
|
|||
Member
|
Quote:
|
||
Reply With Quote |
05-04-2017, 07:00 PM | #7 | |||
|
||||
Member
|
I had my whole exome done by Genos which was just recently purchased by another company:
Genos - Own your DNA, Learn about Yourself, Drive Research I'm still figuring out what data I have, and what data I don't have. I realized last night as I going over all my pathogenic mutations that some variants from 23andme are missing, and they're not just missing from the pathogenic category, but they don't appear to be anywhere. I thought they were well-documented, but if they don't have reliable reports (as deemed by Genos' sources), I won't see them. Still working on understanding that and making sure I'm searching my results properly. The cost is $499, but I got a deal late last year for $350. |
|||
Reply With Quote |
"Thanks for this!" says: | madisongrrl (06-17-2017), mrsD (05-04-2017) |
05-04-2017, 07:28 PM | #8 | |||
|
||||
Member
|
Healthgirl,
Have you uploaded your 23andme data to other sites like Promethease or Livewello? Can't remember if we've talked about that before. Promethease especially is reporting additional information, and Livewello provides all methylation results nicely. Last edited by janieg; 05-04-2017 at 11:21 PM. |
|||
Reply With Quote |
Reply |
|
|
Similar Threads | ||||
Thread | Forum | |||
Hole in my gum? | Dentistry & Dental Issues | |||
Way Off-Topic: Get your gov coupon for TVs w/ rabbit ears | Bipolar Disorder | |||
Hole in Brain | General Health Conditions & Rare Disorders |