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Old 10-18-2014, 08:42 PM #1
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Default Thoughts on genetic testing for SCN9A and SCN10A

Since I still don't have a diagnosis, I guess, I cant ask for genetic testing.
Any thoughts on this?
Has anyone done it or thought of it?
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Old 10-19-2014, 08:46 AM #2
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I had 23andme testing done years ago. Even though they've been shut down by the FDA to reporting medical genetic results, you can still get tested and have access to your raw genetic data. Once you have the raw data, you can poke around in it and look at the results for specific genes.

If anyone here knows the SNPs (parts of genes) involved in SCN9A and SCN10A with regard to SFN or PN, I can check my 23andme data and see if those are SNPs they test. I remember trying to do this once, but only was able to find an article citing one SNP in SCN9A even though it said there were more.

23andme testing is $99 and is not something you do through a doctor.

I don't have much time now, but I'm going to try to compile a list in this post unless someone can come up with a comprehensive list. I'm by no means an expert on this, and am just Googling for relevant information.

I did just find an article that references four SNPs on SCN9A with regard to Small Fiber Neuropathy.

Gene: SCN9A
SNP: rs200945460, rs200398202, rs4369876, rs12478318
Reference: http://www.omim.org/entry/603415

Well, that's unfortunate. Of these four SNPs possibility associated with SFN, 23andme only reports on the last one, rs12478318.

I'm also just going to put this link here for future reference. These are the results of a "Small Fiber Neuropathy" serach on the NIH NCBI website that resulted in SFN-related gene hits.

https://www.ncbi.nlm.nih.gov/clinvar...=DetailsSearch

I'll work more on this later.

Last edited by janieg; 10-19-2014 at 09:27 AM.
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Old 12-07-2014, 10:57 PM #3
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Default rs6746030 AG

rs6746030 is an SNP in SCN9A that is linked to short fiber neuropathy, and the umbrella diagnosis of Fybromyalgia.

The board wont let me post the link to the studies

so you should google for a study titled "Pain perception is altered by a nucleotide polymorphism in SCN9A" head researcher Frank Reimann

and
"A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia" head researcher Gilberto Vargas-Alarcon

Im interested in others with rs6746030 AG who also suffer with pain syndromes like Fybromalgia. rs6746030 is tested by the 23andme test.
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Old 12-08-2014, 09:48 AM #4
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Welcome ewr2san.
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Old 12-08-2014, 10:30 AM #5
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I'm GG on rs6746030, and consider myself to have a pretty high tolerance of pain. (I have small fiber neuropathy.)

Did you happen to do a methylation analysis of your SNPs at this website?

http://geneticgenie.org/


Quote:
Originally Posted by ewr2san View Post
rs6746030 is an SNP in SCN9A that is linked to short fiber neuropathy, and the umbrella diagnosis of Fybromyalgia.

The board wont let me post the link to the studies

so you should google for a study titled "Pain perception is altered by a nucleotide polymorphism in SCN9A" head researcher Frank Reimann

and
"A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia" head researcher Gilberto Vargas-Alarcon

Im interested in others with rs6746030 AG who also suffer with pain syndromes like Fybromalgia. rs6746030 is tested by the 23andme test.
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Old 12-09-2014, 04:32 PM #6
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I have not done a methylation analysis with that site, but have used promethease for a lot of analysis beyond what 23andme provided. Ill give it a shot to see what it shows as well.
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Old 01-24-2015, 12:14 AM #7
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Quote:
Originally Posted by janieg View Post
I'm GG on rs6746030, and consider myself to have a pretty high tolerance of pain. (I have small fiber neuropathy.)

Did you happen to do a methylation analysis of your SNPs at this website?

http://geneticgenie.org/
I am AG on rs6746030 (I have small fiber neuropathy). I am sorting through 23 and me results with the genie.
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