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    Created in 2008, Phoenix Rising is the largest and oldest forum dedicated to furthering the understanding of, and finding treatments for, complex chronic illnesses such as chronic fatigue syndrome (ME/CFS), fibromyalgia, long COVID, postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), and allied diseases.

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Search results

  1. J

    Is my skin colour affected? (Pictures)

    Thanks for you thoughts, i really appreciate it. Regarding the skin colour, the reason that i often look yellowish is not because the skin is yellow from the beginning, its the lightning that makes my skin very yellow. Today i was at the dentist and their room had cold lightning and my skin...
  2. J

    Is my skin colour affected? (Pictures)

    Hello, I have been sick for my whole adult life and even longer then that (im 31). I have done many tests and none of them has shown anything noticeable, im still undiagnosed. The doctors gave up many years ago and i feel like this is coming to a dead end. I don't have any clues, my symptoms...
  3. J

    Bad urine odour, how can i find the cause?

    I have done DNA test and secondary TMAU test years ago, i definitely don't have it. This is caused by something else. I don't have any deficiency that can explain the symptoms i have. I checked urine amino acid levels but they were all normal. I will post pictures of my greyish / yellowish...
  4. J

    Bad urine odour, how can i find the cause?

    I appreciate the information. Its highly possible that my odor changes depending on what i eat, but its never normal or good. Although i can try switching to a vegan diet for a month i don't think it will help since this odor is connected to all my other symptoms. People with TMAU "only" have...
  5. J

    Bad urine odour, how can i find the cause?

    For me its not related to specific food or lifestyle, something is wrong in the body. The only thing that would help is finding out what exactly in the urine that makes it smell bad.
  6. J

    Bad urine odour, how can i find the cause?

    Im 30 years old and i have been sick for many many years and i still don't know what the problem is. It feels so hopeless, i have almost given up ever living a normal life. One of the symptoms i have is bad body and urine odour. I rarely notice any big smell when i pee but afterwards smelling...
  7. J

    Doing a Whole Genome Sequencing (WGS)

    Please update how it goes, who will go through your WGS data?
  8. J

    Doing a Whole Genome Sequencing (WGS)

    Just sent you the links to exome.vcf and all the files beneath it. Just tell if you want the first 5 files in the list as well. Hope it works well! ;)
  9. J

    Doing a Whole Genome Sequencing (WGS)

    Hello again, My results are now ready, not sure which one of these i should upload for you tho? https://www.dropbox.com/s/uhbnait3ythnhz1/Namnl%C3%B6s.png?dl=0 Very much looking forward to begin searching for any clues in this data. I know its just a small chance that we find anything...
  10. J

    Doing a Whole Genome Sequencing (WGS)

    My results will be ready in around 2 months from Gene by gene. Correct me if im wrong, finding information related to my disease is like finding a needle in haystack pretty much? And if my symptoms are from an infection or something i wasn't born with, this information wont be in the data at...
  11. J

    Doing a Whole Genome Sequencing (WGS)

    If you are interested you can e-mail the Assistant Lab Director Ling Dong: LingDong@mednet.ucla.edu I didn't do it because as Valenteijn said, WES seems to be the better choice for now.
  12. J

    Doing a Whole Genome Sequencing (WGS)

    Thanks for the help i really appreciate it. The only reason i would want to wait is because im curious what http://www.helix.com/ will offer. I have another question, not related to genetics but maybe you can help anyway. Isotretinoin affects cytokines, for example it regulates Interleukin 17...
  13. J

    Doing a Whole Genome Sequencing (WGS)

    Sounds good, for me it doesn't matter if your software can read the results now or in 3 months as long as it works. :) I don't know if you are aware of my history but basically i will take this "medicine" which cured me 10 years ago (Accutane) again and before i start with this i will do a...
  14. J

    Doing a Whole Genome Sequencing (WGS)

    Hello again, just got an answer back from GBG and this is what they wrote: For alignment, we will provide a standard .bam and .bai (index) file. The variant calling file (VCF) will be in standard VCF v4.1 (see links below) http://samtools.github.io/hts-specs/VCFv4.1.pdf...
  15. J

    What does Isotretinoin (Accutane) affect in the body?

    Glycine N-Methyltransferase is the same as GNMT Gene which i already listed. I will do a WES (Whole Exome Sequencing) soon so i hope i can check if something is wrong with that particular gene.
  16. J

    What does Isotretinoin (Accutane) affect in the body?

    I have been sick for many many years, i have had a medical investigation going on for 9 years and pretty much all my tests has been normal, at least nothing that can explain my symptoms. I strongly believe that i was born with a disease and then my symptoms became fully developed around the age...
  17. J

    Doing a Whole Genome Sequencing (WGS)

    Sure i will ask them if they can provide a sample when the data is ready and also if they can tell how the formatting looks like. I will update you how it goes.
  18. J

    Doing a Whole Genome Sequencing (WGS)

    Thanks, I will let you know when my data is ready, i will do WES (Gene by gene)
  19. J

    Doing a Whole Genome Sequencing (WGS)

    Valentijn, could you help me to analyse WES results as well? Or could you help analyse WGS results if i did that through UCLA? It looks like i will be able to do that if i want to. What do you think i should choose? WGS (UCLA) or WES (gene by gene)?
  20. J

    Doing a Whole Genome Sequencing (WGS)

    What do you think about this genetic test? http://www.illumina....Ins_1111314.pdf "TruGenome Undiagnosed Disease Test is a medical test intended to aid in the diagnosis of inherited diseases of single-gene etiology." So if i don't have an "inherited diseases of single-gene etiology" this test...
  21. J

    KDM results are back!

    I had even more positive results of borrelia when i did an LTT test a couple of years back. I took antibiotics for 6 months (80 days with intravenous) and felt no difference at all. When i did another test afterwards my results were normal or borderline. Since that day i have ruled out...
  22. J

    Doing a Whole Genome Sequencing (WGS)

    You can do this test as long as you have a researcher on board which i don't have atm.. Everyone i have talked don't think this will help me because i don't know what type of disease im looking for, so im not sure if i will do this (or WES). It feels kinda hopeless.. What can i do with the data...
  23. J

    Doing a Whole Genome Sequencing (WGS)

    Thanks, i tried to sign up as well but i think you have to live in America to do this. : (
  24. J

    Doing a Whole Genome Sequencing (WGS)

    For several years i have suspected that i might have a disease i was born with so i have decided to do a WGS. I don't know what type of disease i could have so perhaps its a small chance to find anything concrete but at least i will have the data and then i will have to do several different...
  25. J

    which genetic test(s) do you recommend/find most helpful? +/-s?

    I really appreciate your answer, someone mentioned the $3500 WGS with analysis @ UCLA earlier which looks good to me. https://www.scienceexchange.com/labs/clinical-microarray-core-ucla "30X coverage: $2500 without data analysis; $3500 with data analysis" I don't know however if i can send this...
  26. J

    which genetic test(s) do you recommend/find most helpful? +/-s?

    Thanks for the info. When i look at the prices for WGS the price difference is huge between different labs. https://www.scienceexchange.com/services/whole-genome-seq Everything is listed as "per sample". How man samples do you think i would need to detect a possible disease i was born with? At...
  27. J

    which genetic test(s) do you recommend/find most helpful? +/-s?

    So if i did a Whole Exome Sequencing (made sure to have someone who could interpret the results) and nothing of significance was found, then i can pretty much rule out that i have a genetic / enzyme related disease? There is also Whole Genome Sequencing (WGS) which costs abit more but perhaps...
  28. J

    Methylation Analysis Results

    I heard about this in the past but as i have been living in several different places since i got sick i don't think its possible that i can have this illness. As far as i know it will be alright as long as you are not exposed to it, or at least you will feel a positive difference.
  29. J

    which genetic test(s) do you recommend/find most helpful? +/-s?

    What genetic tests could discover most rare diseases? It doesn't really matter what it costs i just want to do tests that has a high chance detecting whatever possible genetics or enzyme related disease i have.
  30. J

    Methylation Analysis Results

    I have been sick for most likely since birth, since i was 13 years old my symptoms became fully developed and has been since then. Fatigue, pale and ill looking skin colour, bad body odour, bad hair quality and various mental problems (thinking feels blocked). I got cured 10 years ago when i...