Is genetic testing for EM helpful in treating it?

Hi, I have been suffering from EM for over 2 years and it is progressing quickly. Started in feet, now in hands and ears as well. I have a wonderful team of doctors who have seen only a handful of Secondary EM patients. However, I have been through every test they can think of for diseases that cause Secondary EM and they have all come back negative. My hematologist wants me to have genetic testing to find out once and for all if I have Primary EM, but we are waiting to see if my insurance company will cover it. I have a feeling they won’t and I will have to pay for it out of pocket. Will it be worth the expense to have this testing done? If we find out for sure that it is indeed Primary EM, then will that make it any easier to treat it?

michael Leaver
9:49 AM (58 minutes ago)

to Living
My physician told me the best labs for genetic testing (below) should be about $100.00 and there are options for discounts:

Thank you for that information! My hematologist contacted the Undiagnosed Diseases Network on my behalf and they suggested I contact Prevention Genetics to have testing done. The panel involves these sodium channel genes: SCN9A, SCN10A, and SCN11A. The cost is $1440. On the other gene testing websites, I can only find tests for the SCN9A gene. Does anyone know if it is vital to have all three genes tested?

I am curious why the SCNA 10 and 11 need to be tested. I thought EM was
related to just the SCN-9

Not certain about this, but I think there are cases where EM patients had mutations in the other genes instead of #9, but they are super rare. The #9 is the most common one. I think I will contact my doctor tomorrow and see if he would agree to let me try one of these other labs. Thanks again for the info!

I was just seen by neurologist at major university and she is testing for genetic issues but only because I wanted to know and could pay if not outrageous,
however she said it really wasn’t relevant to treatment so there really was not any reason to do it except curiosity. She is a specialist in genetics and said soon there may be treatment options in the near future that would be related to genetics but for now testing would only satisfy my curiosity.

I figured the testing probably wouldn’t be helpful in treating EM. Boo! Oh well, I would still like to know for sure if it’s primary so I guess I will go ahead with it.

I think you should it could make the difference in the treatment you could receive . Hope all goes well and

Hi Marci,
I have primary EM anomalies in the SCN9A gene. There is absolutely no difference in my treatment for the burning of neuropathy. Although the 23&me test results are fascinating, they don’t go into research many diseases. The raw data is there to explore if you want to.

Hi Marci,

As Satochan says whether EM is primary due to the gene or not there is no difference to treatment it’s just it’s caused by the gene rather than something else.

There may be an advantage in knowing whether you have a genetic abnormality. The aim with primary is to respond to the impact of the abnormality. The aim with secondary is to identify and treat the main cause (non genetic) to which the EM is secondary. They are different mechanisms although the symptoms are so similar. I had a genetic test by Dr David Bennett at the John Radcliffe in Oxford UK. if you have a genetic abnormality certain meds are more logical to use. I think mexilitene falls into this category. And amitriptyline may have more benefit. Also if you are on the ‘panel’ of a specialist like Dr Bennett who is doing research the you have the possibility of inclusion in trials/tests, most of which are geared to primary EM.
Hope this helps

I have been told via Waxman, the big dog at Yale who is the EM specialist that he does not recommend gene testing as there are up to 21 genes associated with EM, and gene testing does not impact treatment. My reason for wanting testing on at lease SCN-9 is that I read a research article stating that if the EM is secondary to another cause, and the cause is cancer, EM shows up on average 2.5 years before the cancer. The test will tell me whether I need to keep vigilant or just treat the EM as primary.

You are right, that’s a great reason to have the genetic testing. If I can find out once and for all if I have primary, then I won’t have to go back every 6 months to have my blood tested for the myeloproliferative diseases. My doctor decided to go with Invitae and they are testing my blood right now.

I have not heard of Dr. Waxman. I looked him up and am so glad to see someone actually doing some research on EM! Does he have a private practice where he will see patients?

So my test came back negative. I am frustrated because my doctors and I thought for certain this must be primary. I guess it’s still possible that it’s primary but might be caused by a mutation in a different gene. Now what?!

Can you tell me approximately what the Invitae testing cost, per gene, or per panel?

I haven’t yet received a bill from Invitae, but the doctor said it would be either $100 per gene or $100 total for the panel of 3. I can update when I get the bill.

Thanks Marci.

I thought I would provide an update. I still haven’t received a bill from Invitae, but I did get a letter from my insurance company that tells me I owe Invitae $1500. However, I had a bone marrow biopsy back in January and I never did receive a bill from that lab; my insurance company told me I owed the lab nearly $30,000. Yikes! I think a lot of the labs must write this stuff off. Crazy.

ETA: How strange is this…guess what I got in the mail this afternoon, just a little while after posting this update? A bill from the lab that did my bone marrow biopsy in January! $700 is what I have to pay. Well, that’s a lot more manageable than $30,000, but it’s still a lot of money, especially at this time of year.

Holy Hannah that’s a big bill for some lab work. I hope that this will at least bring you closer to some answers. We will all be waiting to hear how the results go.