Exome genetic test

[vision blue]

Curious how many have done exome test (genetic sequencing of ones entire exone, the genetic material that creates proteins) If i can get 20 or more, i might be abke to do something with them

 

[nerd]

You could create a poll. But I doubt you'll find 20. It's difficult enough to find people with full genomes. The insurance blockage and stigmatization of CFS/ME basically lead to the denial of any specialized tests.

 

[vision blue]

Exome testing is more common than full genome sequencing. The data files are alot smaller because youre only doing the exomes - and as a result alot cheaper too (exome tests 40 million positions and whole genome 3 billion positions so 75 times bigger)

It woukdnt be through medical testing but rather direct to consumer, much like one would order a 23 and me test - just more data than 23 and me ((which only sequences between 250,000 and 1 million positions depending on when a person tested. ). Exome testing sequencesas i mentioned above total about about 40 million so at least 40 times more data than 23 and me)

Especially interested at the moment in those who also appear to have a mast cell issue like MCAS.

 

[5vforest]

Isn’t this how the IDO metabolic trap hypothesis was originated? They analyzed patient genomes to find mutations that were more prevalent in ME/CFS than in controls.

https://www.omf.ngo/the-ido-metabolic-trap/

I am pretty sure that OMF makes this data available to researchers. Maybe someone could contact them about it.

 

[Learner1]

Exome testing is more common than full genome sequencing. The data files are alot smaller because youre only doing the exomes - and as a result alot cheaper too (exome tests 40 million positions and whole genome 3 billion positions so 75 times bigger)

It woukdnt be through medical testing but rather direct to consumer, much like one would order a 23 and me test - just more data than 23 and me ((which only sequences between 250,000 and 1 million positions depending on when a person tested. ). Exome testing sequencesas i mentioned above total about about 40 million so at least 40 times more data than 23 and me)

Especially interested at the moment in those who also appear to have a mast cell issue like MCAS.

KIT mutations are linked to some mast cell illnesses.

I had doctor ordered GeneDX WES. It's pretty expensive and out of reach for most, without a good reason for doing it. Dante Labs offers a direct to consumer test.

Then you need to have it interpreted.

 

[vision blue]

Yes i know on kit mutations. Is one of the regions am interested in.

I think i payed only 350 for mine , possibly was even less and can check, i believe was a company that later sold to Dante.

The companies themselves can sometimes have browsers with annotated results that consumer can read- ie no middle man ir intrepretation service required

I am tho looking for a good user friendly genome browser because the website that holds my data stopped working with my combination of hardware and Web browser

So between you and me, thats two....(do you have MCAS or related btw? )

 

[zaika11]

I did full exome sequencing, and it found 2 mutations for primary immune deficiency. Later I did whole immune panel (it’s from genome sequencing) and it found plus 5 more mutations for PID

 

[PisForPerseverance]

I don't yet but I will and have mcas. I'll get back to you when I have my results

 

[PisForPerseverance]

@zaika11 how did you interpret yours?

 

[zaika11]

I don't yet but I will and have mcas. I'll get back to you when I have my results

I have MCAS and don’t have Kit mutation (did a separate test before)

 

[zaika11]

@zaika11 how did you interpret yours?

It helped to understand why my immune very low for whole life, and why a whole life I was fighting with an infections

 

[PisForPerseverance]

@zaika11 it's great you got that information. I meant how did you find the pid mutations? A company? Doctor?

 

[zaika11]

A first test was in Russia for cash (Gemotest company), and second panel from Kaiser permanent (covered by insurance), they sent it there https://www.invitae.com

 

[nerd]

Maybe I confused the question. Are you asking about doing 20 new tests or are you asking whether 20 of us already have their exome tested? @vision blue

I'd be curious what you'd like to find in these 20 if you intend to do a study.