Genetic Testing Process?

[~cassie~]

Can anyone tell me what to expect?


We have an appt with a geneticist next month and I have no clue what will happen. When I talked to the scheduler, she couldn't really give me much info, but it did seem like they would decide whether he needed testing or not.

I signed releases for all of his health info, so will they evaluate and decide he needs it, and then do the testing the same day? Or will we have to wait several more months for another appt?

Please share the process you went through, any kind of extra info I may need to have handy?

[dbsam]

My son's genetic tests were done by his neurologist. The blood was drawn at the same visit the neurologist suggested the testing. For us, waiting for the results was horrible. They took a long time to come in and once they did we were told that there was a gene variance but no one could talk to us about it except the neuro, he took forever to get back to us, then told us he was uncomfortable with the results and sent us to another neuro.

We didn't need any extra info.

I hope it all goes well.

[2boyzmama]

For us, basic genetic testing was done at the first appt, and those results determined when his next appt would be. They were normal, so the dr said to come back in a year. I went back sooner, under the suggestion of our pulmonologist, because more information was known, but the geneticist didn't do any more testing. Then we met with a different geneticist a few months later, and that one finally agreed to do more comprehensive testing, those results were back in 4 weeks, and we finally had a diagnosis. It took 11 months total. Which in some ways is long and frustrating, but in actuality it's pretty fast for a kid who wasn't severely ill.

In your case...has he had Conexin 26 testing done? That would be the first thing they'll do almost certainly, and if he's positive, then they'll test you and your husband. If you are both carriers, then your other children have a 50% chance of being carriers, and a 25% chance of having a Conexin 26 disorder. They will probably be encouraged to get formal hearing tests, because they might have hearing loss that you haven't noticed yet. If you are both carriers, you'll be offered genetic counseling to help you determine if that impacts your choices regarding future children.

If he doesn't have Conexin 26, then they might do some other types of blood tests to look for other causes of his deafness. Those tests will be run same day, and either an appt scheduled for a few weeks to go over the results, or they'll call you with the results. ONce you're an established patient, it doesn't take months to get back in, usually only weeks (or days, depending on what the dr thinks.) They reserve only a few appts a month for new patients, all the rest of their appts are for established patients.

[~cassie~]

No he hasn't had the connexin testing yet. I am wanting those as well as another one(whichever goes along with progressive vision loss) as he does have some eye problems as well.

I'm excited for the appt, but worried as well!