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Genetic Tests

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Are you telling me that they can actually test for these syndromes

with a simple mouth swab? That would be so great. My son has been

poked and poked and I am really getting sick of it. I know he is.

Thanks a bunch for the info. I am oing to ask them about this on

Monday.

Thanks again and God bless,

a and Kardyn

>

> Hi a,

>

> My daughter has had many blood tests in her life as well....and

yes it is hard! But I wanted to let you know that the genetic tests

done on our family, through our local Children's Hospital (and then

sent to Genedx) were all done as mouth swabs. Simple and painless

tests for FMF, HIDS and TRAPS. Can you inquire if they can be done

this way?

>

> Anyone else have opinions on this?

>

> Darlene

> mom to Madison 6 TRAPS

> Montreal, Canada

>

>

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There are articles in the file section... Check them out... Also there is a

TRAPs group. Charyn Levy runs... she is on this board too.... It is caused

by a genetic mutation as are the other disorders like HIDs and FMF etc

God Bless

Fran

kristina,

I was wondering if maybe you could explain TRAPS to me and the symptoms.

What causes it?

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  • 1 month later...
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My daughter was diagnosed with nearly a year ago - just after

her 2nd birthday. The diagnosis came after only two blood tests -

one during and episode and one when fever-free. There were no xrays,

ct scans, MRIs that I recall. There was no mention of further

testing - surely no genetic testing - and they have not pursued any

type of follow-up tests or even checkups for that matter. She was

diagnosed by our area Children's Hospital. I must say that her

symptoms seem very textbook .

This is my question...She has her 3-year checkup with her ped. week

after next. I'd like to bring up the genetic testing with her doc.

Can anyone tell me what tests I should request? I just don't feel

comfortable with her diagnosis since they were so quick to label her

with without all the tests that are so often mentioned in this

group.

Any feedback is greatly appreciated.

Best regards,

Mom to (5) & Audrey (3 )

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