23 and me

[Diyena]

Hi, I want to take the 23 and me test to find out if I have any mutations, that could be causing my leg issues. I take b12 injections and follow the vit d protocol. Along with thyroxine and other supplements. Do I need to stop any of those before taking the test?

[helvella Administrator Thyroid UK]

I don't believe most current medications would make any difference.

I hope you have checked what you get from 23andme testing? It is only a very limited selection of genetic decoding. If you know the possibilities in terms of which genes/SNPs you want to know about, check them specifically. If you do not know, the test might be interesting, might even reveal what you are looking for, but there is a very high chance it won't cover what you want.

Their help says:

Our sample collection method is not designed for:

Individuals who are unable to spit; these individuals may not be able to provide a sample using our collection kit. Drool (found outside the mouth) does not contain sufficient amounts of DNA for analysis; only saliva (found inside the mouth) can be used.

Individuals who are undergoing a medical treatment that reduces their white blood cell count, such as chemotherapy; these individuals are advised to wait at least two weeks after the last treatment or until the white blood cell count has returned to normal.

Individuals who have received a bone marrow transplant; in the event that the analysis was successful, it still would be unclear whether the results were based on DNA from the person providing the sample or the donor.

[Diyena in reply to helvella]

Thank you for that. I am wanting to check MTHFR to find out about b12 absorption and also if I have anything that stops the t4 to T3 conversion.

[helvella Administrator Thyroid UK in reply to Diyena]

The Thyroid UK website has details of the so-called DIO2 genetic test:

thyroiduk.org/deiodinase-2-...

I think that might be one part of what you want.

[Diyena in reply to helvella]

Is there a better test?

[helvella Administrator Thyroid UK in reply to Diyena]

We are on the threshold of whole genome sequencing (WGS).

The NHS already does quite a number of WGS tests - both for patients and as research.

They are more expensive and, due to the sheer volume of information, there is much more difficulty/scale to analysis.

We really are not quite there in terms of sale of WGS analysis directly to the public. Possible abroad, but I do not know of any UK-based company offering that.

[Diyena in reply to helvella]

It was the Endo that suggested I go to thyroid uk to get the test for mthfr.

[helvella Administrator Thyroid UK in reply to Diyena]

Well - you don't surprise me there!

Here is a snippet from 23andme which makes it clear that their technology is NOT appropriate:

What Health Conditions Are Not Included in 23andMe?

This article will discuss some conditions that are not included in 23andMe reports.

The 23andMe PGS test is not intended for diagnosis of disease or condition, pediatric, prenatal or pre-implementation purposes. For testing related to a personal or family history of a particular genetic disease, please consult a healthcare provider in order to ensure that you are pursuing the most appropriate test for your personal situation. Although we recognize there is interest in reports on the following topics, reports are not available on any of the following topics. The list below is not comprehensive, and conditions not listed here are not in our current 23andMe reports.

Drug response (for example: CYP2D6 and certain HLA alleles)

Copy number variations (CNVs), balanced rearrangements and mosaicism

MTHFR analysis, such as a targeted mutation analysis, methylation analysis or detox profile

I think you might find some information of interest over on the Pernicious Anaemia Society forum:

This link to posts containing the sequence "mthfr":

healthunlocked.com/pasoc/se...

And this to one specific thread which seems to have asked a similar question:

healthunlocked.com/pasoc/po...

[Diyena in reply to helvella]

Thank you. I used to think I was quite intelligent but trying to make head or tail of these various potential causes makes my head spin! I can’t seem to retain the info anymore.

[helvella Administrator Thyroid UK in reply to Diyena]

Commonly reported here!

I do wonder how much illness/non-100%-health affects these things?

Even at the most obvious end of the scale, impaired sleep, pain, etc., affect us deeply.

[SlowDragon Administrator]

You might consider this option

mthfr-genetics.co.uk

[Diyena in reply to SlowDragon]

Is it a better test than the 23 and me?

[SlowDragon Administrator in reply to Diyena]

I used it to analyse my Ancestry DNA test (which I had done some time ago for genuine family history interest)

For £15 they offer easy to understand analysis of Ancestry or 23and me test results

This suggests to me that “23 and me” results are not easy to understand

The company also offers option to then pay for a consultation with one of clinical support team

[Lora7again in reply to SlowDragon]

My son paid £130 for a 23 test which really did not tell him anything except he had some German and Dutch ancestors but was 85% Irish. He was worried that there might be a history of heart disease in our family which there wasn't.

[SlowDragon Administrator]

Are thyroid and vitamin levels optimal

How much levothyroxine are you currently taking

Do you always get same brand at each prescription

What leg issues?

Restless legs?

Joint pain?

As you have B12 injections do you also supplement daily vitamin B complex?

Vitamin D levels need testing twice year

As you have Hashimoto’s are you on absolutely strictly gluten free diet

For full Thyroid evaluation you need TSH, FT4 and FT3 tested. Also EXTREMELY important to test vitamin D, folate, ferritin at least annually

Recommended on here that all thyroid blood tests should ideally be done as early as possible in morning and before eating or drinking anything other than water .

Last dose of Levothyroxine 24 hours prior to blood test. (taking delayed dose immediately after blood draw).

This gives highest TSH, lowest FT4 and most consistent results. (Patient to patient tip)

If/when also on T3, make sure to take last third or quarter of daily dose 8-12 hours prior to test, even if this means adjusting time or splitting of dose day before test

Is this how you do your tests?

Private tests are available as NHS currently rarely tests Ft3 or thyroid antibodies or all relevant vitamins

List of private testing options

thyroiduk.org/getting-a-dia...

Medichecks Thyroid plus antibodies and vitamins

medichecks.com/products/adv...

Thriva Thyroid plus antibodies and vitamins By DIY fingerpick test

thriva.co/tests/thyroid-test

Thriva also offer just vitamin testing

Blue Horizon Thyroid Premium Gold includes antibodies, cortisol and vitamins by DIY fingerprick test

bluehorizonbloodtests.co.uk...

If you can get GP to test vitamins and antibodies then cheapest option for just TSH, FT4 and FT3

£29 (via NHS private service ) and 10% off down to £26.10 if go on thyroid uk for code

thyroiduk.org/getting-a-dia...

monitormyhealth.org.uk/

Also vitamin D available as separate test via MMH

Or alternative Vitamin D NHS postal kit

vitamindtest.org.uk

[Diyena in reply to SlowDragon]

Wow that’s a lot of info, thank you. I’m on 100mcg thyroxine. I have had leg weakness and pain for about 7 years. Been on thyroxine for 6years. I was vit d deficient and b12 of 234 at the time I was diagnosed borderline UAT, tsh was 5.6 I think. I saw an Endo 18 months ago, I asked to trial T3 as my T3 has never gone above 4.3, no matter what level of thyroxine I’m on. He said he thought my leg issues weren’t related to UAT and referred me to a rheumatologist. I saw her a few weeks ago and she said it was likely thyroid related! 🤦🏼‍♀️ She gave me steroid injections into my thigh as I’ve had a bad back / leg pain since I hurt my back 16 months ago.(unrelated to the leg weakness pain). She said it was bursitis ( I know it’s more a nerve issue) as expected the steroids made no difference.

I am self injecting the b12 to see if it helps. I’m also taking bcomplex and folic acid. I’ve always taken the same brand of thyroxine. Started at 50 went up to 125. Never felt any difference, my tsh has been suppressed for years but no hyper symptoms. But as I said the T3 hardly rises. It ranges between 3.6 and 4.3. I’ve tried HRT for 6 months, no change. So came off that this week. I’m literally trialling all possibilities, as the nhs haven’t helped. I haven’t tried gluten free. I think that may be the next trial.

[Cat013 in reply to Diyena]

Diyena Have you done a DIO2 gene test? My TSH was suppressed on 75mcg of levo and my t3 always dragging along the floor but in normal range. So the lovely folk here suggested the above test. Turns out I was positive and for that reason am now on t3 which for the most part has improved my leg and joint pain, something levo could not do alone. Perhaps this test would suit you. It’s from Regenerus. Can’t help with the others as my B12 is ok.

Your endo and or GP will likely say you’re fine as in range. But you can have a low normal t3 and still have the gene mutation as I did. X

[Diyena in reply to Cat013]

Where did you get your test done please?

[helvella Administrator Thyroid UK in reply to Diyena]

Did you see the Thyroid UK link I posted earlier on this thread?

[Diyena in reply to helvella]

Ah no didn’t see that one, I need to sit and have a good read

[Cat013 in reply to Diyena]

Diyena

regeneruslabs.com/products/...

They also do the other test - MTHFR you were referring to. More details are on the Thyroid UK website.

I also did the general DNA test with Blue Horizon which I found really interesting but I assume it’s not the other genetic test you’re referring to. It talks about your body type, what harms you and what your body can tolerate. It also said I’m prone to certain infections. For example it said I have insulin sensitivity and don’t process carbs. But I can tolerate alcohol (at least there are some plus points 😂). It also told me I was higher risk of joint pain. So it enabled me to change my lifestyle further and look deeper into my health. It’s not cheap though. I later discovered everything it said was true from further tests.

[Diyena in reply to Cat013]

I rarely drink now, it’s weird sometimes I can have a glass of alcohol and I’m fine. Another time it makes me feel awful and I end up only having half a glass! Back of my neck goes really stiff and achey. I get hiccups as soon as I take a mouth full of bread and a few other things. I do wonder if my body is telling me I shouldn’t have gluten.

[Cat013 in reply to Diyena]

You could do a food intolerance test. I know some are cynical about them but I had horrendous IBS, nasal problems, a coated tongue blah blah.. and discovered I was intolerant to dairy. So I gave it up and within three weeks everything had gone. I’d suffered with IBS for over twenty years. So I’d recommend it to anyone.

It may be worth giving up gluten for three months to see what happens. It makes a big difference to my daughter. There are so many great alternatives out there now.

[Diyena in reply to Cat013]

I’m not good with some dairy. If I have normal milk and sometimes cream I have to run to the toilet a few minutes later. But I’m ok with yoghurt and cheese! 🤷‍♀️I did do one of those hair food intolerance tests but I’m not convinced they are any good.

[SlowDragon Administrator in reply to Diyena]

Poor gut function with Hashimoto’s can lead leaky gut (literally holes in gut wall) this can cause food intolerances. Most common by far is gluten. Dairy is second most common.

According to Izabella Wentz the Thyroid Pharmacist approx 5% with Hashimoto's are coeliac, but over 80% find gluten free diet helps, sometimes significantly. Either due to direct gluten intolerance (no test available) or due to leaky gut and gluten causing molecular mimicry (see Amy Myers link)

Changing to a strictly gluten free diet may help reduce symptoms, help gut heal and slowly lower TPO antibodies

While still eating high gluten diet ask GP for coeliac blood test first or buy test online for under £20, just to rule it out first

healthcheckshop.co.uk/store...?

Assuming test is negative you can immediately go on strictly gluten free diet

(If test is positive you will need to remain on high gluten diet until endoscopy, maximum 6 weeks wait officially)

Trying gluten free diet for 3-6 months. If no noticeable improvement then reintroduce gluten and see if symptoms get worse

chriskresser.com/the-gluten...

amymyersmd.com/2018/04/3-re...

thyroidpharmacist.com/artic...

drknews.com/changing-your-d...

restartmed.com/hashimotos-g...

Non Coeliac Gluten sensitivity (NCGS) and autoimmune disease

ncbi.nlm.nih.gov/pubmed/296...

The predominance of Hashimoto thyroiditis represents an interesting finding, since it has been indirectly confirmed by an Italian study, showing that autoimmune thyroid disease is a risk factor for the evolution towards NCGS in a group of patients with minimal duodenal inflammation. On these bases, an autoimmune stigma in NCGS is strongly supported

ncbi.nlm.nih.gov/pubmed/300...

The obtained results suggest that the gluten-free diet may bring clinical benefits to women with autoimmune thyroid disease

nuclmed.gr/wp/wp-content/up...

In summary, whereas it is not yet clear whether a gluten free diet can prevent autoimmune diseases, it is worth mentioning that HT patients with or without CD benefit from a diet low in gluten as far as the progression and the potential disease complications are concerned

restartmed.com/hashimotos-g...

Despite the fact that 5-10% of patients have Celiac disease, in my experience and in the experience of many other physicians, at least 80% + of patients with Hashimoto's who go gluten-free notice a reduction in their symptoms almost immediately.

Getting thyroid levels retested approx 8-12 weeks after going strictly gluten free diet

cheapest option for just TSH, FT4 and FT3

£29 (via NHS private service ) and 10% off down to £26.10 if go on thyroid uk for code

thyroiduk.org/getting-a-dia...

monitormyhealth.org.uk/

[Diyena in reply to SlowDragon]

Until recently I was taking biokult and having home made kefir ( I killed my grains when moving house)

[SlowDragon Administrator in reply to Diyena]

Exactly which vitamin B complex are you currently taking. Does it contain folate or folic acid

You won’t need Folic acid and vitamin B complex

Presumably you have Hashimoto’s?

Many Hashimoto’s patients have MTHFR issues and need folate not folic acid supplements

You need to stop taking any supplements that contain biotin (most vitamin B complex) a week before ALL BLOOD TESTS as biotin can falsely affect test results

Do you ensure thyroid testing is always done as early as possible in morning before eating or drinking anything other than water and last dose levothyroxine 24 hours before test

Any ferritin results?

What was most recent Ft4 and Ft3 results and ranges?

[Diyena in reply to SlowDragon]

I had a coeliac test a few years ago and it was negative. My ferritin was actually high at 185 last year, it was 140 in jan 2020.Yes I always do my thyroid tests first thing before eating and don’t have my thyroxine the night before. I inject B12 twice a week ( started 3 weeks ago) so high folic acid is necessary whilst injecting so often. ( According to B12 wake up group)

My folate was 3 in jan 2020, so have been taking it since then.

I can’t access my most recent thyroid tests as they were via the Endo. However here are my past results.

Results

[SlowDragon Administrator in reply to Diyena]

Ft4 is 53% through range Ft3 only 11% through range

High TG antibodies confirms autoimmune thyroid disease also called Hashimoto’s

Folate is low

Folic acid supplements not recommended

You need FOLATE supplement, ideally in a daily GOOD QUALITY Vitamin B Complex

Lindens vitamin B complex contains folic acid

B vitamins best taken with or just after breakfast

Igennus Super B is good quality and cheap vitamin B complex. Contains folate. Full dose is two tablets per day. Many/most people may only need one tablet per day. Certainly only start on one per day (or even half tablet per day for first couple of weeks)

Or Thorne Basic B is another option that contain folate, but is large capsule

If you are taking vitamin B complex, or any supplements containing biotin, remember to stop these 7 days before ALL BLOOD TESTS , as biotin can falsely affect test results

endo.confex.com/endo/2016en...

endocrinenews.endocrine.org...

Personally I then take a separate folate supplement (Jarrow) in that week before test to maintain folate levels

[SlowDragon Administrator in reply to SlowDragon]

Suggest you push for 25mcg dose increase in levothyroxine initially

Trial strictly gluten free diet

Change vitamin B complex for one with folate in

Retest thyroid levels minimum of 8 weeks after levothyroxine increase

guidelines on dose levothyroxine by weight might help persuade on dose increase

Even if we don’t start on full replacement dose, most people need to increase levothyroxine dose slowly upwards in 25mcg steps (retesting 6-8 weeks after each increase) until on, or near full replacement dose

NICE guidelines on full replacement dose

nice.org.uk/guidance/ng145/...

1.3.6

Consider starting levothyroxine at a dosage of 1.6 micrograms per kilogram of body weight per day (rounded to the nearest 25 micrograms) for adults under 65 with primary hypothyroidism and no history of cardiovascular disease.

Also here

cks.nice.org.uk/topics/hypo...

gp-update.co.uk/Latest-Upda...

Traditionally we have tended to start patients on a low dose of levothyroxine and titrate it up over a period of months. RCT evidence suggests that for the majority of patients this is not necessary and may waste resources.

For patients aged >60y or with ischaemic heart disease, start levothyroxine at 25–50μg daily and titrate up every 3 to 6 weeks as tolerated.

For ALL other patients start at full replacement dose. For most this will equate to 1.6 μg/kg/day (approximately 100μg for a 60kg woman and 125μg for a 75kg man).

If you are starting treatment for subclinical hypothyroidism, this article advises starting at a dose close to the full treatment dose on the basis that it is difficult to assess symptom response unless a therapeutic dose has been trialled.

BMJ also clear on dose required

bmj.com/content/368/bmj.m41

bestpractice.bmj.com/topics...

[Diyena in reply to SlowDragon]

Thanks I’ll take all this info on board. I’ve recently moved house and doctors. Hopefully I’ll find this one a bit more helpful ( won’t hold my breath). I did put myself up to 125mcg in 2018, although my ft4 went up to 20, my ft3 dropped to 3.48! 🤷‍♀️ The GP made me lower back to 100 as my tsh was very suppressed. 😏

[SlowDragon Administrator in reply to Diyena]

That’s the thyroid conundrum....as TSH drops with increased dose levothyroxine conversion can get worse

But poor conversion can be improved by improving low vitamin levels

[SlowDragon Administrator in reply to Diyena]

Your Ft4 at only 53% through range shows you have plenty of room for dose increase in levothyroxine

[Diyena in reply to SlowDragon]

I take lindens b complex, recently swapped over as Jarrows gave me bad niacin flush.

[Diyena in reply to SlowDragon]

My vit d is 132nmol at present

[SlowDragon Administrator in reply to Diyena]

So that’s good vitamin D result

Presumably you supplement?

Do you also take vitamin K2 and magnesium ?

Low Ft3 will cause leg pain

If Ft4 is not right at top of range you are likely under medicated

If you have high Ft4 but low Ft3 you have poor conversion

Frequently strictly gluten free diet helps or is absolutely essential

Certainly need to try it before considering adding T3

ALWAYS get coeliac blood test done BEFORE cutting gluten out

Dio2 gene test can help get T3 prescribed on NHS....

Assuming you test positive

[Diyena in reply to SlowDragon]

Yes I follow the vit D protocol