Did your genetic panel result positive?

[R9L13026]

How many persons with ALS had a genetic test done? I did and was found negative:?

 

[Nikki J]

Interesting question. Can you edit the poll? Maybe add options for tested negative, refused testing and not offered testing. Most SALS people I have talked to have not been tested it seems. Are you SALS or FALS with unknown gene?
Thanks for raising this issue
Best
Nikki

 

[AfraidButNotAlone]

I haven't been tested. Can it be passed on by only the man, only the woman, either?

 

[Nikki J]

Either one unfortunately. If you are the only one in your family with this the odds are it is not truly genetic. It is my personal opinion it is still worth being tested as there are tre atments in the works for c9 and sod1. C9 is seen in about 5 % of SALS ( sporadic or nonfamilial ALS). Some of the ALS specialists are starting to test all their patients for at least c9 but I believe most do not.

 

[R9L13026]

Interesting question. Maybe add options for tested negative, refused testing and not offered testing. Are you SALS or FALS with unknown gene?

For a poll we are limited to 10 items. The Progress Notes from my dr visit for the Athena panel listed these 9 genes. We should consider another poll to ask these questions I like polls!

My Neuro thought that researchers have only investigated/uncovered maybe 30% of the genes?

Tough question at this time for me. My mother was originally diagnosed with MS, my sister who is two years younger than me started using a cane about 6 years ago and has deteriorated to using a PWC. Sis doesn't believe she has ALS. Two Neuro's I've seen believes Mom was probably misdiagnosed.

For me Military service plus being predisposed to something familial really increased my chances of having ALS.

My ins co covered the cost of my test, however I read another post here where it wasn't covered for them and it was quite expensive, more than I would have thought. When I got tested it was very unclear if ins would cover it. I ended up taking a chance and luckily it was covered.

Thanks for asking.
BOB

 

[Nikki J]

I am sorry about your family. Have you seen the negative report for c9 yourself? If not maybe ask for it to be sure. C9 presents in some very funky ways. I wonder a little whether you were really tested for it because 1 I see your diagnosed date is 12/11 and c9 only became available for commercial testing 4/30/12. If you had a panel before then it would not have been tested and 2 your neuros statement about only 30% of genes ID'd. That was pre c9. C9 accounts for 40% plus of FALS and they now say 75% of FALS is accounted for. C9 was identified in late 2011 and as I said Athena only started testing at end of APril 2012. Thanks again for the poll

 

[R9L13026]

From our poll results so far, doesn't look like a lot of fALS here.

Yes my 1st neuro diagnosed me with ALS Dec 2011 and recommended getting a 2nd opinion. Got my 2nd opinion in Hawaii. Decided to go to the UCSD neuro in Calif for a 3rd opinion because I didn't believe I had a terminal illness, just some weakness in my legs and twitching.

So I had actually put the diagnosis of ALS on the shelf for about 6 months, denial I guess. That was kind of a good thing. I didn't do the Athena panel until July 2012.

I think the doc really didn't want me to get to hung up on coming up neg with the genetic testing. Since most FALS/PALS are not tested these researchers are extrapolating the data. Kind of makes you wonder how accurate the statistic of 4-5% of sALS have the c9orf72 gene mutation.

Some of the earlier research I was reading about FALS
1993 discovered the SOD1 affecting 20% of FALS
2001 discovered the Alsin (TDP-43. FUS,ODTN, VCP etc.) combined affects about 10%
2011 discovered the c9orf72 affecting 20 - 30 - 40%? FALS and very exciting affects SALS.

I'm in that 30% with a defective gene not discovered yet.

Not real sure what it would take to have the medical community test all PALS for the c9 mutation.

 

[Nikki J]

Sorry. That unknown gene thing is rough. I was hoping for c9 for you! What would it take to test all pals ? Lots of money unfortunately! At the Gleason summit what the neuros really wanted was complete gene sequencing on all PALS. I bet that would give lots of answers if only they had money and resources!
Best
Nikki