Mayo Clinic doing full genetic study?

[JennifersHope]

THanks for your replies, I am not going to be able to maintain what little sanity I have left if I don't know for 100 percent certain that they are doing a full genetic panel.
<br />
<br />My CF nurse told me it was "the same as Ambry" but I am getting the feeling it is not.

 

[hmw]

I personally don't understand why the other places that do the genetic sequencing don't do it ALL like Ambry does. (the deletions and duplications I mean- Genzyme and Quest don't look for those either.) A measurable percentage of people who don't have both mutations discovered without that additional step will go on to have them found once that is done, and when it comes to a disease as serious as CF wouldn't you think that is is significant? So why not...?

As it is, as stated on our Ambry results, up to 2% of people with CF will not have both mutations identified no matter how thorough the testing is, so it's important to get the best testing possible to maximize your chances of getting accurate results.

 

[hmw]

I personally don't understand why the other places that do the genetic sequencing don't do it ALL like Ambry does. (the deletions and duplications I mean- Genzyme and Quest don't look for those either.) A measurable percentage of people who don't have both mutations discovered without that additional step will go on to have them found once that is done, and when it comes to a disease as serious as CF wouldn't you think that is is significant? So why not...?

As it is, as stated on our Ambry results, up to 2% of people with CF will not have both mutations identified no matter how thorough the testing is, so it's important to get the best testing possible to maximize your chances of getting accurate results.

 

[hmw]

I personally don't understand why the other places that do the genetic sequencing don't do it ALL like Ambry does. (the deletions and duplications I mean- Genzyme and Quest don't look for those either.) A measurable percentage of people who don't have both mutations discovered without that additional step will go on to have them found once that is done, and when it comes to a disease as serious as CF wouldn't you think that is is significant? So why not...?
<br />
<br />As it is, as stated on our Ambry results, up to 2% of people with CF will not have both mutations identified no matter how thorough the testing is, so it's important to get the best testing possible to maximize your chances of getting accurate results.