How do you get those tests done? My neurologist doesn't do it.
I am also very interested in sodium channel research mostly because of how a ketogenic diet can work for epilepsy due to mutations.

The test has to be done by a lab specializing in DNA testing, and I assume would require a doctor's order, although a lot of labs are doing direct to consume testing now. A blood draw is required, so you have to go to Quest or some place like to start the process.

Here's one lab that offers SCN9A sequencing, but SCN10A and SCN11A aren't part of it.

https://www.genedx.com/test-catalog/...thy-sfn/34209/

I think the way this works, and maybe someone else can chime in, is that once certain gene mutations are conclusively identified for a disorder, these test companies will offer targeted screening tests for that disorder.

For example, this Genedx company offers a hereditary neuropathy panel that looks for Charcot-Marie-Tooth and other forms of known inherited neuropathy.

https://www.genedx.com/test-catalog/...thy-sfn/39532/

The cost of these tests can be high, though. They're not mentioning prices on these tests, but somewhere else I saw a neuropathy panel for $1600 but it also didn't included all the latest genes mutations referenced in the latest research.


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My father has been diagnosed with Huntington's disease which is a pretty serious disorder. His diagnosis is clinical. Insurance refuses to pay for the genetic test to help confirm the diagnosis and is additionally rejecting the drug that his neurologist prescribed to help with his chorea because it is expensive. His insurance company is disgraceful, in my opinion. He needs that genetic conformation before the insurance company will even consider that drug, which they might still deny if it gets to that stage.

So, I would guess that insurance would not cover the costs of those tests, if you could even find a neurologist to order it. Especially if there are no different drugs that on the market that have an indication for this, then the treatment path would be the same - gabapentin, Lycra, Cymbalta etc.

His insurance company is indeed disgraceful. Do they think there's another cheaper drug that he should take instead?

With my $5500 insurance deductible, whether insurance would cover it or not, I'd essentially have to pay for it anyway. I'm not sure I'd be inclined to go that route unless there were something that could be done about it, and we're many years away from any targeted drugs on those three sodium channels.

Like I'm doing with my "pre-pre-diabetes" status, I'm just going to assume it's part of the problem and do whatever I possibly can for it. Right now if someone were to force me to take a guess at what's causing my problems, I'd have to say it's mildly elevated sugar levels working in concert with bad genes that are starting to express themselves as I age. Something has me feeling better than I was a year ago, and I have to believe the ALA and LCHF diet are involved.

I'm not sure if there is another drug. I'm still learning about this disease. He is getting one month of it for free somehow, probably as a trial. The drug costs $7000/month. Then I think it will become an insurance struggle to get it covered after that.

I also selfishly want him to get the genetic test because it impacts my life. Children have 50% chance of inheriting this condition and often times will undergo genetic screening because it is such a devastating diagnosis. And I'm sure it will be a battle with my insurance to cover part of this....especially if his diagnosis is just clinical.

There is so much literature on ketogenic diets and epilepsy. It's interesting that you mention this because I just bought a book for my kindle where someone basically complied all the ketogenic research. It only cost $1, so I figured even it was poorly done that it wouldn't that financially disappointing.

http://www.amazon.com/Principia-Keto...owViewpoints=0

Here's a sodium channel drug undergoing clinical trials for treating post-herpetic neuralgia (lingering nerve pain from shingles) and osteoarthritis. Interestingly, it's applied topically. It's only in Phase 2b, however, so it's still years away from possible approval. The ointment is currently being called "TV-45070."

Las Vegas, NV – Monday, April 13, 2015 – (Techsonian) – Teva Pharmaceutical Industries Ltd (ADR) (NYSE:TEVA) and Xenon Pharmaceuticals Inc.

(Nasdaq:XENE) recently proclaimed that the first patient has been enrolled into the Phase 2b study designed to evaluate the safety and efficacy of the novel topically applied TV-45070, (4% and 8% w/w ointment) in patients with postherpetic neuralgia (PHN). TV-45070 is a small molecule inhibitor of the sodium channel Nav1.7 and other sodium channels, including those that are expressed in the pain-sensing peripheral nervous system. It is being developed for the treatment of patients with various pain indications, including neuropathic and osteoarthritis pain.

More info:

http://www.xenon-pharma.com/product-...ain/pain-teva/

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Thanks for the link! I work on clinical trials so I enjoy reading about this type of stuff. There is probably less than a 1 in 5 chance anything makes it to Phase III. It's nice to see companies work on orphan drugs for a change.

I wonder if these tests a reliable, because some private labs are there to earn profit.

HI there,

Convergence Pharmaceuticals are preparing for phase 3 clinic trials for nav 1.7 blocker. They are in preparations for other candidates too, which I believe the next is diabetic neuropathy.