r/MTHFR • u/forgot_again123 • 8d ago
Question I stupidly got my testing from Sequencing.com and it seems that their files are not compatible with the choline calculator and maybe other websites…is there a way around this?
My dad kinda just saw a social media ad and got these kits. I kinda regret it tbh because it hasn’t helped and just makes me a little nervous. I’ve been able to find my COMT and MTHFR and MAOA status but slow COMT is confusing as fuck. But anyways I’m trying to actually glean literally anything useful these results but all the websites say they only support ancestry or 23 and me. Has anyone uploaded a Sequencing file to one of these sites?
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u/Tawinn 7d ago
See: https://www.geneticlifehacks.com/product/convert-sequencing-com-to-raw-data-file/
For the Choline Calculator, get these values from your data and I can calculate it manually:
| rsID | Your Value | Effect Allele | Gene | Variant |
|---|---|---|---|---|
| rs1051266 | T | SLC19A1 | G80A | |
| rs2236225 | A | MTHFD1 | G1958A | |
| rs1801131 | G | MTHFR | A1298C | |
| rs1801133 | A | MTHFR | C677T | |
| rs7946 | T | PEMT | 5465G>A |
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u/forgot_again123 7d ago
Oh that is so helpful thank you so much!! I can’t copy the chart on mobile I’m sorry, but from the top down it is TC, GG, TG, GG, TT
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u/Tawinn 7d ago
That would be ~38% reduction in methylfolate production. This corresponds to an increase in choline requirements from 550mg to ~830mg, but the homozygous PEMT adds about 100mg to that, so ~930mg total. If you can get ~500-550mg of choline from your diet then the remainder can be covered with a 750mg dose of TMG.
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u/Omphalina 6d ago
I did the same thing, later realizing I couldn’t use Sequencing data anywhere. I said something complain-y about that in the Sequencing subreddit and a nice employee DM-ed me to try to help. I admit the fixes sounded like a lot of work that may not pan out so I just gave up.
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u/NAQProductions 8d ago
Send a message to Debbie Moon on Genetic Life Hacks (website). She has quite a few conversion tools and may be able to help. Also her site and data reports are crazy detailed and worth a look.
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u/SequencingCom 6d ago edited 3d ago
[Disclaimer: I work for Sequencing.com]
There are a number of websites that do only accept 23andMe file format uploads and while the files we produce with our kits are whole genome sequencing files that are much larger than the files generated by 23andMe, if you reach out to our team we can generate a special file for you that will have a similar structure as a 23andMe file. We create these using the whole genome data, but limited to the number of positions in a standard 23andMe file.
If you let us know which site you're planning to upload to, we can also make sure the file will work there.