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Sorry the last one should have been to Hannah's mom. Also, if a mutation has only been seen in a few families or less there is really no way to know more about the mutation and that is the case for many of the mutations you have all asked about. see the above post, because even more common...

Hannah and others, Mutations that end in an X are stop codon mutations and would be the target of a new drug from a company called PTC. the drug is ataluran and basically is treats stop codon mutations. You only need to have one of these X type mutations so it would apply to anyone who has one...

To all the questions regarding specific information about a particular mutation. If the mutation is not deltaF508, it is a rare mutation. some are more classic or severe, some are more moderate to mild. there is no way to predict exactly any one mutation or combination of mutations on how they...

Natalie, It is likely you are correct, but CF can present in may different ways and usually there is no family history so that doesn't reduce your odds. A normal sweat test is the best way to rule it out, I understand the problem with driving to get it done. I am sure the doctor just wants to be...

Samples can be sent from any country, we receive them from all over the world. The results usually take 2-4 weeks depending on how much testing we need to do. Tests must be ordered by a phyisican as we have to send the results back to the ordering physician only and not directly to the patient...

Steven (Ambry) <P>Jen,</P> <P>Everyone has two copies of the poly T, most likely one of you is 7T/9T and the other is 5T/7T. Only the 5T has any consequences, the others are normal variants.</P> <P></P> <P>Steve<BR></P>

<P>Tiffany,</P> <P></P> <P>since we know that you have two CF mutations and are definitely going to pass on one of them you may want to consider more comprehensive testing on your husband.</P> <P></P> <P>You could do a mutation panel that would detect only those mutations on the panel, we have a...

<P>Zinnia,</P> <P></P> <P>the deltaF508 goes with a 9T, so a 5T/7T could be an error. I would advise retesting to be sure since that would be avery unusual result. I expect the deltaF508 and the 5T/12TG to be on opposite chromosomes and that is why the IRT and sweat test were both elevated.</P>...

<P><BR>Beofett,</P> <P></P> <P>Not sure if testing needs to be repeated, maybe just clarified. I cannot comment on someone elses test results. You can have your doctor contact me directly if there are questions.</P> <P></P> <P>Steve</P>

<P>Elena,</P> <P></P> <P>We have never seen that mutation, so there is really no information to give. It is obviously very rare and so I would not expect any significant literature to help explain it.</P> <P></P> <P>Sorry I couldn't be more helpful.</P> <P></P> <P></P> <P>Babs,</P> <P></P>...

<P>LTA,</P> <P></P> <P>Articles are not written for lay people so I really can't help you there. Statistics don't mean anything. If I told you something was 1 in a million and you are the 1 then it is 100% for you.</P> <P></P> <P>All mutations are variable so you can never predict exactly in any...

<P>You are correct, CF is a progressive disease, it never gets better over time, the best it can do it stay the same but given enough time it always gets worse.</P> <P></P> <P>Obviously, not following recommended treatments can certainly speed up the process. There is no way to predict in any...

<P>MistyJo,</P> <P></P> <P>The panel you refer to is not the 92 most common mutations, only the 92 mutations that happen to be on that panel. In fact, many of those mutations are very rare and in reality almost all of the CF mutations are rare. So it is really not that rare for someone to have 2...

<P>Mommie2mickie</P> <P></P> <P>Yes the genetics are just one part of the puzzle. If the genetics are negative that does not mean that it is definitely not CF, however it is very unusual for us not to find at least 1 mutation on someone who has clinical symptoms of CF.</P> <P></P> <P>Steve</P>...

<P>Johanna,</P> <P></P> <P>yes it means he was tested for 42 mutations, and yes he does not have 2 deltaF508 mutations since that would have been seen. </P> <P></P> <P>it is really important to determine the sweat level. I am guessing by now you have a sweat test result which has helped to...

<P><BR>LTA,</P> <P>Since you already know your mutations, you do not need any additional testing.</P> <P></P> <P>Best of luck,</P> <P></P> <P>Steve</P>

<P>Yvette,</P> <P></P> <P>These are two different mutations, and you could actually have one of each on each chromosome. </P> <P></P> <P>If the test was a sequencing test it would detect all of the mutations, if it was a panel test they would need to have both mutation on the panel to be...

<P>Dave,</P> <P></P> <P>6T is very unusual. It is possible that it is significant, but it is all possible that the TG repeat may have an impact on this as well. Not sure who did the testing but you may want to have them address the TG issue and also double check that it really is 6T.</P> <P></P>...

Kellyga c.4197_4198delCT. if the nomenclature is correct we have never seen this variant. there is one that is one base before this 4196_4197delTC and this mutation used to be known as 4326delTC. that is probably why you can't find anything, it is very rare either way. Sorry I could not be...

New Diagnosis bhm Congratulation on the new pregancy. Good luck with a 1 year old and a newborn and trying to maintain 7 minute miles. I am jealous, I have to work hard just to be under 10 minute miles. The 5T/12TG finding is like a milder mutation. In combination with DeltaF508 it can...