Gene Testing
 

I finally took the tiger by the tail and had my genome tested commercially by one of the services that does AUTOSOMAL DNA testing. Additionally, there are FREE ADD ON programs that you can run your raw data thru to really look at things. I don't want to advertise, but if any one looks for gene testing companies, this one runs $149. Yes, that's all. They give you a great interactive web site. They list your mutations and what diseases they are associated with.

I highly, highly recommend doing this. I don't know what caused my PN yet, however, I found out I carry a lot of mutations for diseases that are associated with PN.

I also have a LOT of gene mutations associated with Celiac Disease. I have been tested several times, always by the same guy, but, after going gluten free for 3 weeks, I went in for an ANA and it was NEGATIVE! After 6 years of having a high ANA, whether on IVIG or not, it came back negative.....Hmm. I found out I am an FUT2 non-secretor which means my mucous and epithelial tissue does not secrete blood antigens when it attacks virus or foreign invaders. About 20% of the population carries this, and I wonder how this affects immune response in general. It confers norovirus resistance.

I feel ever so slightly better, but, I don't expect miracles.

Also, the test came back with MANY drug polymorphisms. I can't take many drugs given for this condition, nor the other common conditions we see. I am a a very high risk for myopathy from statins. I metabolize amitryptiline and SSRIs very slowly as well as some anti seizure meds. I metabolize all NSAIDS including aspirin very slowly. I don't do well with Wafarrin either. I slowly metabolize caffeine. I have several enzymes in my liver that don't metabolize drugs properly. There is additional raw data that will be of use in the future.

I may have some issues with a gene involved with CMT and HNPP.

Altho there is no 'ah ha' moment which will lead to diagnosis, there are significant medical and lifestyle decisions I am making based on knowing what my body is naturally all about!

I am waiting for results of medical testing to see if there is a mitochondrial issue via several nuclear genes that influence mitochondrial. The 24 nuclear panel. This is second line testing after your mito genes come back typical.

After poking thru the genome, I understand how primitive 'modern' medicine really is. Wow.

Very interesting. I think you can put the name of the place you
are getting tested at on here. It is not against the rules,
to share. (only not for those working at the labs to advertise per se).

I might get it done too. I suspect I am a slow metabolizer as well, as I usually need much smaller doses of some drugs.

Wow, thanks for sharing this. Very interesting indeed.

Did this test evaluate MTHFR mutations?
In other words, methylation errors?

And--
 

--did they do a DQ lymphocyte typing (primarily for celiac propensity, but this often reveals other tendencies as well)?

I assume you've never shown up positive on an anti-gliadin or anti-transglutaminase assay.

I did 23andme which is an autosomal testing service online. I had almost my entire genome typed. They skip a small portion of genes. They also do your mitochondrial genes too.

I was gene typed, in other words, they analyzed my genes and pointed out alleles in snps that are mutated in people that have the disease. Same with MS. The genes only point to propensity, and are not diagnostic, however, if you carry enough mutations, you can start to draw some conclusions.

They typed my Cytochrome p450. Three of my enzyme systems have issues. CYP2C9*1 is not functioning, and CYP2C9*2 is poorly functioning. CYP1A2 is metabolizing slowly as well. There are additional genes causing metabolism issues. I also have a problem with statins, in my genotype, statin myopathy risk is 5x higher. I found out that I have an issue with serotonin levels being too high.

When you get all the raw data, you can do an add-on to the 23andme, via Snpedia. This automatically references all your snps, so you can click on the snp and get citations! It refers you to several data bases and google scholar citations.

You can also take your raw data and run it thru Promethease, which is yet another service, (free) that accepts 23andme raw data. (They charge $2 via Amazon to expedite your download-it's very long otherwise) There are several free programs that take the data for anthropology use or medical use.

23andme is very user friendly. It's easy, colorful and interactive. You can go as deep as you want into the data. They warn you and allow you to NOT view certain data, such as Alzheimer's risk, if you choose not to. You can lock it out of view.

I recommend it, for the drug metabolism testing alone.

phenotype
 

i read an article lately, dealing with anew field - epi-genetics, which said that even if we have mutations on our DNA, what is influence is the envirment. We have to suplly our body with good stuff and hope for good.
I reccomand you all to read the book "the biology of belief".

Some of the members of our PD forum have done the
23andMe service.

I just had peek at 23andme but cant see it for $149.00 anywhere, its says $299.oo on the splash page here

Thats a heck of increase.

m

Looks like they raised the price. They were just granted a patent recently too.

It was $149.00 and I looked about 2 wks ago.

http://neurotalk.psychcentral.com/thread170864.html

Read the whole thread... there is discussion.
23andme is now $99 US.