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Harriett, Yes there are some mutations that can be more associated with GI problems and of course there are some that are more severe than others. With regard to who should be screened and how, it is probably best to wait for the first test results to come back and then depending on the...

Melissa and everyone else here at CF.com, Thanks for the kind words they are much appreciated. I truly enjoy being able to provide support for people at what can be a very difficult time. I would also like to wish everyone a very healthy and happy 2009. Steve

Sarah, Deletion of exon 2 is fairly rare, much more common is a deletion of both exon 2 and 3. either way when there is a deletion of 1 mor more exons it is like a classic severe CFTR mutation. In combination with a deltaF508 I would expect a typical CF presentation. And yes I would say it...

Dolline, What genetic testing has your son had, maybe there is more testing that would be more comprehensive. Steve

CJsmom, The best thing I could suggest would be to discuss with the two doctors who said he might have CF and have them write a letter to try an get the insurance to authorize it. I do not think a sweat of 28 is exactly passing with flying colors and that this would warrant further study to...

Are you sure that it is A107V and not some other mutation like A1067V? The reason I ask is because we have never seen or heard of the mutation A107V, which means that if it exists it would be extremely rare. Regardless, the Ambry Test analyzes the entire CF sequence so we can detect all...

Alicia, It is not just the specific mutation that determines the severity of the disease. There are other modifying factors that we do not fully understand at this point. So whether the mutations are both deltaF or some other combination of severe mutations, the range and course of the...

Steven (Ambry) jeff, CF is a spectrum disorder, so you can have a mild or severe form of the same disease caused by different mutations in the same gene. These two mutations are generally considered milder and together could result in a very mild to moderate form of CF. It is also possible to...

Jenny, All tests would check for the deltaF508 mutation, I am not sure what other tests you are referring to. The deltaF508 is the most common mutaton, it can cause moderate to severe CF but everyone is different so there is no way to know for sure. best of luck, Steve

Steven (Ambry) I would have the lab double check the results, because usually with a deltaF508 it is on a 9T chromosome and then you would know the 5T is on the other chromosome. It is also helpful to know which TG is with the 5T since when you have a 5t/12TG it would be more significant then...

Steven (Ambry) Lauren, You would probably have to ask for it, we do receive samples from that hospital but usually for other conditions besides CF. They can send to us but I am not sure a CF test will necessarily come here. In addition, I do think it is highly unlikely we will find 2 CF...

Steven (Ambry) You are very welcome. Good luck, Steve

Mom23, The testing performed in 2007 is the same as today, so it would not be necessary to repeat it. Since we analyze the full gene sequence, it would detect all of the mutations. Remember there is no testing that is 100% but the CF Amplified is 99%. Steve

Send me the name and birthdate in a private email and I can check for you. Steve

Abbysmom, yes she would have to carry one of his mutations. It is also possible for her to carry something that she inherited from you. Therefore it would make more sense for you to be tested with the Ambry Amplified test and if nothing else is found then she doesn't need to be tested...

Valerie, If the testing was done several years ago then deletions and duplications were not likely to be done. It is something the doctors can order now. Steve

Julie, It can go either way, sometimes the results come back sooner whether they are positive or negative and sometimes they take longer, but the average is around 3 1/2 weeks if we have to do deletion testing. Steve

Julie, The CF Amplified test was ordered which included deletion testing if necessary. Steve

Sandy, Yes your primary care can order the test as well. Just make sure you sign a consent form to give your permission to use the sample that was previously submitted. Steve

Steven, We know that deltaF508 is linked to 9T, so that would mean the 7T is with the R117H. I am not aware of evidence that shows the 7T is more severe than the 9T. Generally the 5T is the one that is more severe and the other two are considered normal variants. CF is progressive, so in...