jamienoble

Im not asking for medical diagnosis, im asking for potential genetic tests that could help me to find whatever is causing my problems. What do you think about this genetic test? http://www.illumina.com/content/dam/illumina-marketing/documents/clinical/TransGenBroch_UndIns_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 would be useless to me?

My symptoms are: Mental Problems (thinking feels blocked, concentration problems, often forgets words and sentences, nervousness, bad memory, easily irritated), fatigue, pale and ill looking skin colour, bad body and urine odour, dry and lifeless hair. Just to clarify, i was cured by taking Roaccutan (isotretinoin) not the other way around, all my symptoms went away for 6 months until they gradually came back again around the same time. It may sound weird but i didn't know i was sick until this happened, i was young and i went to school and felt bad everyday but i never cared. When this happened i realized i have lived all my life as a sick person which i thought was normal. This wasn't because of a depression or hallucination, going from sick to healthy to sick again was extremely clear to me, especially with physical changes happening (skin colour, body odour, hair). I need to find a clue, another piece of the puzzle to find this disease and that's why i wanted to do this Whole Genome Sequencing. What would you do in my position? If you knew for 100% you had a curable disease in your body but the medical investigation is going nowhere? Are there any other genetic related tests that i could do instead of WGS? Thanks for the help..

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 of 13 or 14. its either that or i got my disease / infection when i was very young and it has stayed in my body ever since and cant be found, that just seems very unlikely to me. 10 years ago i got cured for 6 months when i took Roaccutan (Isotretinoin) against accne. I took Roaccutan for 7 months, a couple of months after i stopped taking it all my symptoms went away and then gradually came back again 6 months later (acne disappeared tho). I haven't found anyone anywhere who has experienced anything similar, Isotretinoin is known for its negative side effects and can pretty much only cure skin problems and cancer. I have a curable disease that temporarily can be cured by Isotretinoin and it affects the brain, skin colour, body odour, hair and fatigue, that's all i know. I recently heard about Whole Genome Sequencing (WGS) and its something i feel like i want to do. I have talked to two Swedish gene scientist but they are kinda sceptical that i will find anything of value doing such test. They told me it could work if i knew what type of disease i was looking for but not in my case. That there are about 50 000 mutations in all of us and several thousands of them can be connected to my problem. What do you think? Could i find any clue by doing a WGS analysis? What can i do with the data myself? What should i look for? If i decide to do this i would probably do it through this lab: https://www.scienceexchange.com/labs/clinical-microarray-core-ucla 3500 dollar with data analysis Thanks for the help..