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Fel, You certainly seem to have a good understanding of the possibilities. There are a lot of families like yours where the genetics doesn't quite add up. It seems like the S912L is definitely not a severe disease causing mutation and may not be a mild one either but it is possible that it...

Thanks LL for a good background and update for many. Just to clarify about the 5T polymorphism issue. Everyone carries a certain number of T's that are strung together in intron 8 of the CFTR gene. Most people carry 7 or 9, and about 7% of the population carry 5. Right next to this poly T...

Sorry that I have not been getting notifications when questions are posted to this thread. hopefully that has been fixed and I should be available to answer questions in a reasonable time. If someone still has questions that need an answer please let me know, otherwise I should be able to...

Not that I am aware of, but it is certainly possible. steve

Answer from Ambry Beccamom The test that you need done is Ambry CF Amplified. This is full sequencing and deletion testing and is the most comprehensive testing available for CF. all panels only check for certain mutations, that is why you need sequencing to be able detect all mutations...

Rare mutation Sara, Only one other person with that mutation besides your daughter, no real information to share. All this tells us is that this mutation is very rare but there is no way to predict anything about it. Your daughter will be the best predicter of what will happen. best of...

child's results It looks like all they found was deltaF508, no 5T, so she is just a carrier. The other variant is R75Q which is not a disease causing mutation, I hope that helps. steve

This string was just recently brought to my attention. There seems to have been some misunderstanding I would like to clear up. Yes the 3849+10kb mutation is one of the non X mutations that will work with Ataluren. The typical stop mutation is any mutation that ends in an X. This mutation is in...

Jeanine and Pam, Both R334W and R1066H are classic CF causing mutations that can result in typical severe CF when combined with another severe mutation. I am not sure of the class of mutation but the Class of mutation is not significant. All mutations can vary and the disease is not the same in...

Jeanne, It looks like he has deltaF508 and 3199del6, This is a less common mutation but would be considered a typical classic CF causing mutation. Each child is different so you can never predict exact symptoms from the mutations. I am not sure what class of mutation this is. Steve

Julie, Basically he is a carrier of the 5T, which is like being a carrier of a mild mutation. Not going to cause CF like disease by itself. If deletions were not performed it would be a reasonable option to check for that since that does account for a group of CF mutations. I would also think...

Sweetninis, Yes it is possible for someone to be a carrier of CF and Thalassemia since they are located on different chromosomes and have no interaction with each other. It is also possible for a person to be affected with two different genetic conditions as well. Steve

Olivia. I would suggest posting this message in a different forum, since I am unable to help you with this matter. STeve

Jen, V470 is the same as M470V. And yes if one parent has two V's then the child would have to have at least 1. In fact many people have two and about half the population has at least one. So this is a very common variant that has no clinical significance. Steve

Lety, All testing must be ordered by a doctor, but you can always pay directly. the cost for the del dup test is $695. I hope that helps. Steve

Daisy, I agree with your doctors, we do see some carriers with symptoms. It is also possible that you do have a second mutation that we cannot identify. the technology we use to find mutations is able to detect all mutations within the coding regions of the gene. however, mutations in other...

Lety, Deletions and duplications are a type of mutation that involve large portions of the gene being missing or duplicated. This involves one or more entire exons. (the CFTR gene has 27 exons) You need to use a different technology to pick up these mutations since they are not detectable using...

MiahsMom, We know you have at least one CF mutation, DeltaF508 since your daughter has two of them. It is certainly possible you also have a second mild mutation that explains your elevated sweat tests. It is also possible your symptoms are not related but more of a coincidence.It would...

The drug may be useful for other mutations and they are being investigated right now. however, no other mutation has been approved for treatment other that G551D. The other mutations will have to be looked at on their own, not sure which ones will or won't qualify at this time. Steve

kellysmith and any others. I would say the test has really not changed at all in the last 5 years. However, if someone was tested prior to 2006 and there is still a suspicion of CF it would be a good idea to be retested, otherwise there is no reason to retest assuming the most comprehensive...