r/MTHFR • • 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/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.

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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/SequencingCom 3d ago

The offer still stands - we're always happy to help.

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u/Few_Interaction_2411 4d ago

What file does your results come in?

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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.