Hi Jenna,

There is a blood test that can show if you have Sticklers but it is
not very reliable, in the sense that many people having clinical
manisfestations of Sticklers do not test positive.

On the other hand, some types of Sticklers do not have a test, the
tests only looks into known chromosomes alterations, but some
patients do have the clinics and no alterations in these chromosomes.

So, the dx is more clinical than blood test, although having the
blood test positive is a confirmation, of course. This test is very
expensive, so if an insurance does not cover it, many people wonder
whether to pay for it or not, as it is not 100% reliable. In some
countries, there are even no laboratories testing it.

Regards,
Elena (mom to Patricia, 16 months, PRS)

--- In sticklersyndrome@yahoogroups.com, "jennamooney" <mooney6@a...>
wrote:
>
>
> Hi (hey chickie Joni!) I have a 19 month old with PRS. SHe was
just
> dx'd with Myopia. So now our Opthomoligist & Ped are rushing us off
to
> genetics b/c our optho said that she was showing signs of either
> Sticklers or Marshall syndrome b/c she has conductive hearing loss
and
> slow moving ear drums.
>
> I am looking for info and support while awaiting genetic
counselling.
> I took the dx criteria from the Stickler involved people and the
> criteria from Gene reviews and Bryn scored as having Sticklers.
>
> I was wondering HOW they dx Sticklers. Is it Clinical or is it a
blood
> test?
>
> Thank you (thanks Joni!)
>
> Jenna M. Mum to Bryn: PRS, Myopia, OSA & CSA, Hyoptonia, CHL,
Spinal
> def's, VPI, Submucus CP.
>