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testing for fragile x

16 replies

sarah876 · 13/04/2010 21:56

Hi, just out of curiosity did anyone ever had DNA testing for fragile x when their child was diagnosed for autism or asperger's syndrome?

OP posts:
AngryWasp · 13/04/2010 22:12

yes

MiladyDeWinter · 13/04/2010 22:20

Yes, I took DS two weeks ago but no results yet. I wasn't even told about it by our Paed, just that she wanted blood tests. Was only reading the forms that I knew. Nice!

MannyMoeAndJack · 13/04/2010 22:27

yes my ds was tested before he was dx, it came back negative.

sarah876 · 13/04/2010 22:28

Milady, what made you have the test done?
I was thinking of having my son tested, My son was not asked for blood testing but after reading some stuff on the internet I thought it would be a good idea just to make sure.

OP posts:
lou031205 · 13/04/2010 22:31

Yes, the first investigation DD1 had when her GDD was indentified was a blood test for Fragile X & Williams Syndrome. I think the Fragile X blood test is part of a standard investigation when developmental disturbances of any kind are identified.

MiladyDeWinter · 13/04/2010 22:40

sarah, I didn't ask for it to be done but my son was dx quite clearly with autism. It was all up to the Paed.

Do you want a test? I may be able to help you there as DD has basically a female "haemophilia" so you can imagine how used I am to fighting

claw3 · 13/04/2010 23:01

Ds has been tested, i was told by Paed, it is just something else to rule out before a dx is given.

ArthurPewty · 14/04/2010 09:14

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loobywhitwell · 14/04/2010 09:53

i got my son tested for fragile x in jan. It took 8 weeks for the results to come back & it was negative. They were testing my son for Coeliac as well, so they tested for fragile x at the same time.

BigWeeHag · 14/04/2010 10:32

First paed we saw tested DS1 for fragile X and Downs and some other genetic stuff. He ordered the tests because he felt DS1 looked "odd." Lovely man, excellent manner.

ouryve · 14/04/2010 10:32

Yep. Both my boys did as a matter of routine through their diagnostic period.

NorthernSky · 14/04/2010 11:28

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anonandlikeit · 14/04/2010 11:45

My ds was tested for fragile X & general chromosone screening, as well as his ASD, CP etc that we ahve always assumed was down to his v prem birth he also has what his paed felt could be genetic markers (a number of birth marks of varying type, excess hair on his back, unusual ears, spaced teeth) so just wanted to make sure she didn't miss anything.
It all came back negative

anonandlikeit · 14/04/2010 11:46

Just re read that, honestly my ds2 is very handsome....

BriocheDoree · 14/04/2010 12:40

DD was tested for Fragile X and q22 deletion (DiGeorge?) and a couple of others, also metabolic stuff. All negative. Was a while ago so I can't remember what they all were!

Militantendancy · 14/04/2010 15:53

Yes, DD was tested for Fragile X and a load of other chromosomal screening. All canme back negative.

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