NF2 Genetic testing

[jerseygirl]

Hi,

Did anybody have any kind of genetic testing for NF2? If so, how did you go about it and where? What exactly the results are?

                      Eve

[tony]

There are tests for NF2 - but understand they do not always find the
cause - I think its about 70% of the time (ish ??) that they do
There is an NF2 organiser stateside who still turns up negative in the tests
If they get a clear result - then they can be more certain of any follow up
tests with family members
Best to deal with a specialist NF2 clinic
Best regards
Tony

[jerseygirl]

Tony,

Where are the labs that do NF2 tests in UK and what method do they use? I know of only two in the US. One I just spoke to looks at the entire chromosome 22 and attempts to find deletions. It takes about two months and costs $1150 unless insurance picks up the tab (in the works, of course). They told me it is 95% accurate.  Would appreciate any information on the topic.

                  Eve

[tony]

Your info sounds about right - the condition is rare
In the UK each of the regional health authorities has a local specialist clinic
- mine is in Oxford - they do the samples etc and it is then sent onto a central
lab for testing - sample tissue from OPs is used, sometimes they just take blood
It takes about three months - can take two attempts to get an answer
Offline I can send you the address of the NF2 Crew organiser (USA) - she may be able
to offer more stateside info - please advise
Best Regards
Tony

[jerseygirl]

Tony,

That would be phenomenal if you can send me that person's wearabouts. Also, is there an on-line NF2 support group where I could find out more about genetic testing? Do you know where the central lab in UK is located? Do they have a website? I would like to compare the techniques they use to analyze tissue samples with what they do in US. Did you have the genetic testing done? If yes, what do the results look like?

Sorry that your answer generated more questions but I am a curious lot by nature. I just can't rest until I have all the answers.

               Eve

[tony]

OK I will drop the note direct
Meanwhile UK, the genetic centre links to Evans (world expert in NF2)
He is based in manchester (Hosp or Uni)
 - you may see some of his output on the web
I think the techniques are the same in terms of testing
ie missing bits or abnormalityin the 22 - if it is 90% now then OK
- I am surprised - I always thought it was a bit more hit and miss
It took two attempts to find mine - and I know of some
who still show negative and have a handful of Tumours
Best regards
Tony

[NF-2er]

Hi;

   To my knowledge, testing in the USA was still only about 60% accurate. Doesn't hardly seem worthwhile for a 50/50 disease but genetics clininc do it anyhow; Especially for suspect parents who are pregnant. There may be an ethical choice in some people's minds if a parent is an NF-2 carrier.

   NF-2er