U.S. MTHFR Genetic Test?

[srmika]

Hi all! Has anyone in the U.S. been tested for the MTHFR genetic mutation? Based on past posts, it looks like people have used 23andme.com, but that's pretty pricey and perhaps more robust than what I need. Does anyone have other recommendations? Thanks for any advice you can lend!

[Jeast]

Tested family members with 23andMe. Also tested my grandson thru the Yasko service. Now getting him done thru 23andme. Yasko was much higher in price, and only tested the handful of genes she works with. Read an analysis recently of how many genes you get with a variety of the commercial testers, and 23andme was recommended. Sadly, 23andme buckled to the FDA and now provide only the raw data.

Article said most test less than .05 % of the genome. Couldn't find that link, but here's another (no recommendation that I noticed).

isogg.org/wiki/Autosomal_DN...

Note that they all use the illumina service, and I think illumina now does personal testing direct.

Yasko' site still lets you input your mthfr snps (free) on an onsite form that gives you info on their effects on your methylation process. So if you get the raw data thru a cheaper service, then run it thru promethease.com ($5 us) or genetic genie, you will get the rs numbers needed.

If you do this, DO NOT PANIC! You will see every disease god gave a duck, but when you check the risk alleles at say snpedia, you'll find most of them are common in the "clinvar" or normal. The learning curve is substantial.

But there is a lot of interesting stuff besides the mthfr--for instance, how you will react to medications like plavix, nsaids, allopurinol, etc. Are you a carrier of hemochromatosis or thalassemia? which masks b12 hematology.

I'd see what each site offers. Do you get the raw data file, etc. There are LOTS of variables.

[srmika in reply to Jeast]

Great information! Thank you so much!

[Holnee]

As someone who is trained in genetic counseling, I would encourage you to request that genetic testing be done through your physician, rather than with direct to consumer products. Sometimes, these tests and their results can raise questions at that are best addressed by your doctor. In my opinion, the best approach is to consult with a genetic counselor or their equivalent prior to undertaking any genetic test. There are nuances to the results that can be difficult to interpret on your own. Additionally, a trained genetics professional will take a complete family history, and may discover other conditions for which testing should be considered and which may not be included in the testing being done. Also, insurance may be more likely to cover testing if it is recommended by your doctor or medical professional, rather than pursuing it on your own.

[Jeast in reply to Holnee]

Totally agree. Haven't given up on finding a medical professional to help. Would of had a much happier last fifty years if any of my doctors had jumped in--but hoping the massive input from the internet will finally breach their walls. Seeing someone new this month.

[Holnee in reply to Jeast]

Maybe this will be helpful? nhs.uk/Conditions/Genetics/...

[srmika in reply to Holnee]

That's very good advice; thank you. I'm pursuing that route, too, but have heard the test can be twice as expensive if you go through a doctor. So, exploring all of my options!

[Jeast]

Yeah, just signed up for a coursera intro to genetics. My daughter teaches this at college level, and wants to sit in-- so many changes, new research daily. Wonder if anyone here has used livewello to interpret their raw data. It's $20 US, but generates health reports and seems to have a discussion forum where folks are comparing their results and symptoms. Been reading the reports, but thinking about using the service. Promethease reports are mostly lists of pmid studies--very hard to draw conclusions, which I guess is the point.

[Culdesacmom]

I have used 23andMe and LiveWello and they were both very helpful. 23andMe tests the largest number of genes and now they offer a $99 test. I looked into all the application tools and decided on livewello because they give you the best for your money. They give unlimited variance reports for each file and you'll need that feature.

You have to be careful when testing through your doctor--

Make sure your deductible is affordable and make sure insurance will actually pay for it. Doctor testing also does not test as many as 23andMe which I think tests 600,000.

[srmika in reply to Culdesacmom]

This is super helpful. Thank you!!