Genetic testing for NF2

[aliciafrye10]

I was diagnosed with a right AN in march of 2000, when I was only 12 years old.  I am now 23, and decided to get the genetic testing done since I now have 2 children, ages 4 and 1 1/2.  I got the results back the other day, and I am positive with NF2.  The only reason it was suggested to me to be tested was because of how young I was when I had my first one.  10 years have gone by, and no other tumors... yet.  I am going to look into my kids getting tested ASAP, so that they don't have to go through the hell I did.  I lost all of my hearing when my surgery was done, which ruined my dream to go in the military.  I don't want to see my kids' dreams go up in smoke because of a medical condition if there is a way for me to stop it early

[jerseygirl]

I was told that there are two ways to test for NF2: one is to look for specific mutations to see if they are present and the other is to attempt to reconstruct the entire chromosome, or at least NF2 region, to see if there any mutations present. The first way will never find any rare mutations and therefore the person will have a negative test while indeed having NF2 and the other method, although supposedly (theoretically)  more accurate, might not be sensitive enough to detect any mutations.

My suggestion is to call a lab that provided testing to see which method they used.

                Eve