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New member
May 20, 2018
Loved one DX
Eagle River

For the backstory on this thread, please see the original Familial ALS posting. Perhaps a moderator can combine these two?
We have received the gentetic testing results from my husbands brother, who had ALS-like neuromuscular degeneration combined with a family tree with many ALS and FTD cases including their mother and sister. His case was complicated by several other health conditions. They did discover the C9orf72 gene which in our minds was the most likely cause. Apparently the scientific community is not in agreement over how many repeats of GGGGCC you need in order to be considered as having the mutation. In his case one sample had 9 and the other had 31 which puts him just over the line ( but given the symptoms and family history we have no doubts).

Like his brother, my husband is retired military and eligible for VA care. We are exploring with Tri-care and the VA options for genetic testing. The research center we have been working with, NU, is not testing non-symptomatic family members at this time.

If necessary we will go with a commercially available test- but I do have questions in regards to if these are reported as positive/negative, or if you are told your actual number of GGGGCC sequences. May have no significance with what is now know, but you never know for the future.

There are members of the immediate and extended family who do want the testing but for whom this would be financially difficult and others who want to be tested who do not want to be told the results until they are ready to ask for them. We will be speaking with Nailah next week to see if she has any advice.

Thank you all for this forum.
C9 commercial tests are reported with numbers up to a certain point then it is just greater than x repeats. My original test was Athena and their cutoff was 44 ( so I have 2 and more than 44). To get a number for toxic repeats higher than the standard cutoff is technically possible by other very expensive testing but isn’t done clinically as the cutoff is high enough that they say it doesn’t matter. As you say that may change some day.

You can research the cost of c9 testing Nailah may know where it is cheapest. Under 300 is what it was 2 years ago.

It will be interesting to hear what Nailah thinks about the intermediate repeat.

Good luck
I was tested at Johns Hopkins in 2016 (after wanting a third opinion.) He did genetic testing because of a questionable family history and some post-polio types of illnesses, plus a bunch of autoimmune issues.

They told me it might cost me around $300 but it ended up being free. I don't know if Johns Hopkins wrote it off or found a way to test free (I've since had other genetic testing that was free) but no charges were billed to me.
Took my PALS to the Mayo Clinic (FL) and Johns Hopkins for 2nd & 3rd opinions. She agreed to be tested for bio-markers and came back positive for C9 at both the MC & JH.

This was a quite traumatic discovery for our children (and their spouses). It was one thing for Mom to be diagnosed and another for the potential of our children (and grand children) having it in their future.

MC & JH both offered genetic counseling and testing to our 4 adult children and my PALS' siblings, at no charge.

We spoke to a genetic counselor at the MC. It is strongly advised to get genetic counseling prior to testing as there are many factors to weigh before deciding on genetic testing; not the least of which are current laws with respect to insurance. While GINA protects against genetic discrimination in health insurance, it doesn't cover life, disability or long term care insurance - these are factors to be considered for younger and middle-aged adults.

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