Diagnosis by DNA test results?

Wanted to ask how common it is to have been diagnosed via DNA test results. Was just diagnosed last year by a DNA expert, and this was pretty much what was said about it by the specialist (when discussing it via email):

‘Onset of Multiple sclerosis the HLA-DRB1 gene, 2b multiple sclerosis, including changes in the IL7R human leukocyte antigen (HLA) and complex variant of the HLA-DRB1 gene, HLA-DRB1*15:08, linked genetic factor. Disruption in the HLA-DRB1: DRB4 16 address change may be possible.’

‘DNA treatment (HLA-DRB1: DRB4 16 address change )’

Could any experts help with ‘translating’ that? Lol
Or at least expounding on it a bit more, regarding how legitimate it sounds and all.

Would really appreciate it

What is a DNA expert, and what has your actual neurologist told you?

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I have never heard of anyone being dx this way. I didnt think a particular gene had been identified yet hence why we still dont talk of MS as hereditary. (Even though it is as so many people have parents of children with it - but because currently identical twin studies dont provide the same statistics the modelling still states it is not) Thats my understanding and I am not a scientist nor claim to know the depths of this subject. It is interesting though as I wonder if can be tested for this gene issue when testing for other gene issues such as the ones for cancer. It is always a tricky one as to whether you really want to know and then of course you have to declare it on everything going even if you are not affected. On the other hand if we all knew what potential risks we face would we live a better lifestyle to try and prevent or be aware to test regularly.

Re MS - Im interested how this came about - were you part of a study? Did you have MRI and Lumbar Puncture. What symptoms did you display with? also if had MRI did they say where lesions are? curious whether different genes perhaps cause lesions in different areas perhaps — curiosity - I dont know enough to quantify anything useful myself!!

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Well, he basically sends over DNA samples to John Hopkins Institute, and then once they send the results, he interprets them and then suggest solutions through communication with the relevant departments at John Hopkins. His qualifications show the following: “D.Sc, Dr.rer.medic”

The neurologist suggested I get an MRI scan, which thankfully didn’t show any internal damage, but she did say that many of my symptoms did seem to indicate towards MS, and that the lack of any negative feedback from an MRI scan doesn’t necessarily negate the MS diagnosis

Hello Abdi

I don’t believe that it’s possible to diagnose MS from DNA.

Having had a brief look, it seems that the HLA-DRB1 gene does mean that you might be marginally more likely to develop MS. But genetics plays only a small part of the development of MS.

There are, as Plushpear said, identical twin studies that show definitively that genetics are not the whole story. In fact, as shows, the lifetime risk of getting MS as the identical twin of someone diagnosed is only 1 in 5.

Other factors contributing to the development of MS are environment, exposure to viruses, geographic location, gender, and many others. In fact, growing up in Africa makes it less likely that you have MS. That would probably explain why you’ve not found anyone else in Malawi with MS.

Have a look at This will give you a better idea.

Considering you’ve had a negative MRI, the presence of a specific gene is irrelevant.

To me (albeit not a doctor, just a generally well informed person with MS), you have not been diagnosed. That’s not to say that you definitely don’t have MS, but that it’s certainly not proven that you do. The diagnosis of MS is usually based on the McDonald Criteria (McDonald criteria | MS Trust)

I suggest that you see a neurologist. Don’t base your health problems (about which you’ve said nothing) on MS until and unless a neurologist formally diagnoses it.


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I see what you mean, makes sense. Thoroughly appreciate the feedback :slight_smile:

Hmm, I see. Regarding the contributing factors, the doctor has brought that up early into our treatment plan as well, stating that John Hopkins are particularly interested in my progress and situation because of how rare it is for a person of my ‘circumstances’ to be diagnosed with MS.

So basically, since last year, I’ve been on that treatment plan that the doctor has arranged, which involves weekly injections. A special serum (which apparently is prepared and sent from abroad by John Hopkins Institute) mixed together with Vitamin B12 one week, followed by a (exclusive) Vitamin B12 one the next.

The diagnosis and treatment plan began a month or two after my CRPS had spread from my left leg to the left side of my torso, as well as the area around (and including) my shoulder, so since that time, there definitely have been improvements, but I can just as easily associate those improvements with how much physical therapy has been involved in my recovery since the spread, due to having experienced how much of a positive difference physical therapy had on my condition with a previous spread (from the left leg to the left foot), so yhea, it’s a pretty confusing conundrum to say the least.

have u
paid for this?
I cannot see it would be on NHS as there is only the mcdonald criteria neurologists can follow.

as to DNA. Its like saying i hvae had epstein barr virus so i have got MS, as it turns out a high percentage of people who have had EBV go on to develop MS.

It seems to me you are a guinea pig to something. I would love to know if your neuro is actually on board with this.

My friend has just spent over 20,000 on a new protocol for cancer, its to do with DNA, and special cocktails of drugs it stems from spain.

You can pay 199.00 for a Genetic Predisposition DNA test at International Biosciences. it isnt for a diagnosis of MS but for possible predisposition. SEE BELOW.

Genetic predisposition DNA testing for multiple sclerosis is important if the condition is to be better understood, which is necessary for finding new forms of treatment and perhaps even a cure. Early diagnosis of the condition would also be made more efficient if it were possible to identify a genetic predisposition to multiple sclerosis. In this respect, it is thought that the causes of multiple sclerosis are both environmental and genetic, so there is unlikely to be a definitive genetic blueprint that explains all cases of the condition. Evidence suggests that there is a slightly increased chance of an individual developing this disease where a relative is also affected by the condition.

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Yup, we paid the equivalent of approximately £1,800, which he said was just a fraction of the cost since two other medical research companies were covering the bulk of the cost. Here was pretty much was communicated with me regarding that:

" Donor Celgene Corporation, Bristol-Myers Squibb (1st Donor) Method using 3-(4-amino-oxo-1,3-dihydro-isoindol-2-yl)-piperidine-2,6-dione for the treatment and management of myelodysplastic syndrome. DNA by JHI/CW Chemical receptor antagonist (2nd donor). "

The fact that we’re in a country like Malawi complicates matters a bit more since we don’t have governing bodies as principled and recognised as the NHS there in the UK, and other similar bodies.

Sadly I think your being taken for a ride hun. There is no treatment with DNA. I double checked it yesterday and even managed to talk to my MS nurse about it. this is a con you will not improve and you may think you feel better but perhaps wishful thinking. The fact your in Malawi is a give away as dont you think its odd that if it was that simple countries like USA and especially UK would be using this technique?

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Yhea, I definitely see what you mean. Thoroughly appreciate the honesty.
Been getting the injections for more than a year now, and well yhea, the situation has improved compared to what it was last year, but at the same time, the deterioration (last year) was diagnosed (by 2 seperate physical therapists) to be a CRPS spread (have had that since December 2011) and I’ve previously managed to handle spreads quite well through exercises, so my current improvement could just as easily be attributed to that.

Anyways, I guess I definitely am quite appreciative that this could most likely not be MS :slight_smile:

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Hello again Abdi

I think you are coming to the same conclusion as most of us here. It’s very, very unlikely that you have MS.

Living in Malawi is the first clue. The second is that it’s impossible to diagnose MS with a DNA test.

Believe me that you are in a better place by acknowledging your problems are probably CRPS rather than MS. I found this on CRPS: Complex regional pain syndrome - Treatment - NHS I hope you get some respite from your pain.


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Yup, thank you all very much for y’alls opinions and facts, has definitely been quite eye-opening, thoroughly appreciate the feedback.
Not sure how to go about discussing this with the ‘doctor’ now though.
Going to have to try to figure out a way to address this with him :thinking:

One last point I’d make Abdi is about your treatment.

If you are finding that it eases your pain, or that it gives you more energy, then good. But if not, then I’d consider saving your money.

You’ve said it includes vitamin B12. Have you had a blood test that indicates you have a deficiency? If not and it doesn’t give you any help, then definitely think about stopping. Maybe consider changing your doctor too?


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The condition definitely seems better than last year when the CRPS had just spread, but as mentioned earlier, that significant improvement could just have easily been attributed to my physical exercises and therapy sessions since then.

Regarding the vitamin situation, that was another point that the DNA tests apparently ‘uncovered’; my Vitamin D and B12 levels were low, and their receptors were damaged.

When it comes to the money and doctor situation, it was basically a lump-sum payment that was required when we first started the treatment, and there haven’t been any direct charges since then. We’ve gone through many different doctors and treatments over the past 10 years or so, both here in Malawi, as well as abroad, and yhea, just when it seemed like this doctor had the ‘solutions’, looks like we’re going to have to move on from him now also

Again Abdi, no one can identify a vitamin deficiency from DNA. Yes, find a new doctor. One who looks at your symptoms, uses actual medical testing to detect what is wrong with you (ie, recognised examination equipment, blood tests for vitamins, MRI for neurological problems, X-rays, CAT scans, etc, etc).

Maybe you can find a doctor who not only can properly diagnose you, but who can find some effective treatment. Preferably without costing you (or your family) a whole load of money.

And forget DNA as a means of diagnosing disease, disorders, deficiencies or any other body problems. Just because we don’t fully understand DNA doesn’t mean a man/woman in a white coat with a stethoscope can use it to ‘detect’ ill health or treatments.

Be well, or at least better than you are now.


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Understood, can’t thank you, and everyone else who has helped out here, enough! :blush:

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