Genetic tests

General
1

Hi,

I came through genetic tests for SCA 1,2,3,6,7,8,12,17,28 thats all now.

I was tested in Prague,

well just of my curiosity are in US or UK more tests availeble?

thanx

2

I dont know what is available but I have had tests for 1,2,3,6,7,14,17,28.

It would be interesting to hear what tests other people have had.

Im in the US

3

That many?
What did you achieve as an ataxian
Regards
Barney

4

Hello I am due to get my results for AOA1 AOA2 & ATM all recessive genes.

I am in England

Wendy xx

5

There are at last count 53, and steadily climbing, types. I was DXd 18 years ago with unknown SCA. I just recently confirmed for SCA 15 (test not available yet). Nothing has changed, life is absolutely no different. I feel no different having a number. Numbers are for doctors and researchers, and mean almost nothing to the individual (my opinion anyway). I would concentrate efforts on exercise, diet,, and maintaining an upbeat attitude. Those are my 3 keys to living with ataxia.

6

SCA14 in the Netherlands. And a couple of tests for recessively inherited ataxia's such as Friedreich's.

Best regards,

Cristel

7

Thanks Jonas.. that's good to know.

Patsy

8

It looks like genetic testing is up soon for me, No one knows much about my fathers family, and back then people were more private about their "business"

When you say came through that means no find?

9

On this one I agree with Bernard and Jonas. When I found out what the test cost. For what? Maybe a number. Maybe!

10

Hi,

Good to have this tests available.

I think this is the only genetic tests commercially available now for SCA. I know there is over than 30 genes have been identified to be contributing for SCA development. However, only, 9 is available for public testing. Hope by coming years more genes will be available for testing to help in the diagnosis and treatment.

Thanks

11

To peter
All tests were negative.
Number could be good for treatment, might be.
For prognosis and at least for searching on internet.

12

I don't even know if my insurance would pay for the $20.000 in test. I couldn't even find out. That is to out rag est.

13

I am glad the tests are available and I look forward to more testing. I will check with the geneticist again in the fall.

I would like a type for targeted treatment, and for specific learning.

14

I feel misled

Is there an ataxia cure?

If there is why is it not readily available?

I have xxx and need cure yyy.

I wish it was so easy!


Regards

Barney

15

I was diagnosed with ataxia (unknown cause) 10 years ago. No one in my family, as far back as we know, has/had ataxia, except me (I consider myself "special"...,ha!). Therefore, I haven't a clue why I have this. Just last year I had genetic testing for the known recessive types of ataxia, which was negative. Even though there is no cure, I just had to know (although I have no idea why?!?!). Obviously, I'm no closer to an answer now than I was then! So, no more testing for me! I've finally "accepted my ataxia, which is refreshing! I won't give up or give in, as I'll do whatever I can to keep myself as healthy and vital as I can, for as long as I can! ;o)

16

Rose I can understand why you would want answers. And its a shame that these test cost so much. So we should get some answers. But in my case their was 4 or 5 people in the relation that had it. So I know in away why where mine came from.

17

What what what! 20,000?!?!?

Lori said:

I don't even know if my insurance would pay for the $20.000 in test. I couldn't even find out. That is to out rag est.

18

Yes Peter my test were going to cost up to $20.000.00 and that wasnt a garrenty that I would get a number. To find out if the kids had the gene. It would cost about &16.000.00 per. child and I have 3. to much to ask the insurance to pay!

19

Hello, Jan
I was originally diagnosed with SCA, but when my neuro checked my family history, he tested for FXTAS, and the result was positive. If you have other family members who have had ataxia, or if there is a family history of autism or developmental disabilities, then you might consider asking your doctor to test for this. I was able to participate in a research study once I had a definite diagnosis, and the medication, Memantine, has helped immensely with the cognitive symptoms I was having. I can think so much more clearly now; not as well as before symptoms started, but enough so that I can follow conversations and read, and that has improved the quality of my days. It does not affect the physical symptoms, but I find it easier to cope with them. I wish you well on your search for answers.
Lorinn

20

Well said Jonas Cepkauskas, Numbers are for doctors and researchers, and they mean nothing to the individual. I was recently tested for SCA 13, SCA 14, SCA 28, SCA 5, SCA 3, SCA 12, SCA 1, SCA 6, SCA8, SCA 10, SCA17, DRPLA, SCA 2, and SCA 7 They all came back negative. There are so many types of ataxia and many types being discovered that you can bankrupt the insurance company. The Doctor wanted to run more test to find out the type. I told the Doctor that I'm no longer t interested in knowing what type it is. No one benefits from the test except Doctors. As you said the 3 keys to Living with Ataxia is exercise diet and maintain an upbeat attitude. It is what it is. Keep following Jonas philosophy and we'll be fine. By the way, my syptoms are similar to SCA 6 (onset in the early 50's, wide gait, can not do the quick turn arounds, involuntary tremors.)

Jonas Cepkauskas said:

There are at last count 53, and steadily climbing, types. I was DXd 18 years ago with unknown SCA. I just recently confirmed for SCA 15 (test not available yet). Nothing has changed, life is absolutely no different. I feel no different having a number. Numbers are for doctors and researchers, and mean almost nothing to the individual (my opinion anyway). I would concentrate efforts on exercise, diet,, and maintaining an upbeat attitude. Those are my 3 keys to living with ataxia.