StevenKeiles
New member
kari,
I would need to know exactly what gene you are referring to.
Steve
I would need to know exactly what gene you are referring to.
Steve
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- Thread starter Buckeye
- Start date
StevenKeiles
New member
JennifersHope,
It depends what is matched up together, If the R117H is on the same chromsome at the 5T and there is also 12 or 13 TG's attached to the 5T it would not be that mild. It would actually be more moderate to severe.
Severity in order from least to most would be:
R117H/7T
R117H/5T/11TG
R117H/5T/12TG
R117H/5T/13TG
For just the 5T it would be similar:
5T/11TG
5T/12TG
5T/13TG
Steve
It depends what is matched up together, If the R117H is on the same chromsome at the 5T and there is also 12 or 13 TG's attached to the 5T it would not be that mild. It would actually be more moderate to severe.
Severity in order from least to most would be:
R117H/7T
R117H/5T/11TG
R117H/5T/12TG
R117H/5T/13TG
For just the 5T it would be similar:
5T/11TG
5T/12TG
5T/13TG
Steve
StevenKeiles
New member
Shelly,
My first question is what type of genetic test did he have. If he did not have a full sequence evaluation that is what he needs. R117H is only one out of 1500 possible mutations so he could have another one, that is why you need to make sure he had a test that checks for everything and not just a panel of 30 or 40 mutations.
Steve
My first question is what type of genetic test did he have. If he did not have a full sequence evaluation that is what he needs. R117H is only one out of 1500 possible mutations so he could have another one, that is why you need to make sure he had a test that checks for everything and not just a panel of 30 or 40 mutations.
Steve
StevenKeiles
New member
Angie,
We have not received his sample yet, I am under the impression it is being forwarded from Labcorp. If this is not correct you should call our main number and ask for Tamara.
thanks,
Steve
We have not received his sample yet, I am under the impression it is being forwarded from Labcorp. If this is not correct you should call our main number and ask for Tamara.
thanks,
Steve
grassisgreener
New member
Hi Steve, can you tell me what domain class 2751G>A is? I can only find that it is found on exon 14a. Thank you!
StevenKeiles
New member
Don't know what the class is. You have to realize that most CF mutations have not been studied to determine exactly what class they would fall into. You can make an assumption, but I don't think the class really matters since all people with the same mutations can be different. I know that is not what you were looking for but that is the reality. Knowing the class really won't tell you what to expect, only time will do that.
best of luck,
Steve
best of luck,
Steve
grassisgreener
New member
I was hoping to find out because of the possibility of vx770 working on other class 3 mutatuations (not just G551D, which is the only mutation it is being tested on currently) not so I could try to guess the severity of her disease. I was wondering if this mutation is a Class 3, which might mean that my daughter could benefit from vx770 in the future. Thanks anyway!
stringbean
New member
My 7-yr-old daughter had two borderline sweat tests and her gastroenterologist ordered the genetics test (pulmonology always orders the test, but my daughter wasn't seeing that doctor at the time.) I was told that two mutations would confirm CF, but no mutations does not rule it out.
The test came back with one mutation and the report said she does not have CF. I was so shocked by the one mutation that I didn't ask any questions. We were referred to a pulmonologist and she stated rather emphatically my daughter DOES NOT have CF. When I tried to ask why it's been ruled out when my daughter has two borderline sweat tests, pancreatic insufficiency, one mutation, and asthma she gave me the name of another doctor and told me to get a second opinion -- but never answered my question.
Why is it possible to have CF if the test returned with NO mutations yet <i>it has been completely ruled out </i>when there was one mutation?
We are seeing the pediatrician this week and she is wonderfully easy to talk to and very thorough. I'm such a novice about this whole disease that I don't even know what to ask. I'm reading here about full panels and deletions and rare mutations... What should I ask to find out if we had the most comprehensive test? Is there a way to absolutely know that my daughter is a carrier, but does not have CF herself?
Thank you!!!!!!
The test came back with one mutation and the report said she does not have CF. I was so shocked by the one mutation that I didn't ask any questions. We were referred to a pulmonologist and she stated rather emphatically my daughter DOES NOT have CF. When I tried to ask why it's been ruled out when my daughter has two borderline sweat tests, pancreatic insufficiency, one mutation, and asthma she gave me the name of another doctor and told me to get a second opinion -- but never answered my question.
Why is it possible to have CF if the test returned with NO mutations yet <i>it has been completely ruled out </i>when there was one mutation?
We are seeing the pediatrician this week and she is wonderfully easy to talk to and very thorough. I'm such a novice about this whole disease that I don't even know what to ask. I'm reading here about full panels and deletions and rare mutations... What should I ask to find out if we had the most comprehensive test? Is there a way to absolutely know that my daughter is a carrier, but does not have CF herself?
Thank you!!!!!!
V
valigirl21
Guest
Steve,
We have talked several times and you told me my son's testing did not include a deletion/duplication, and that I should ask for that to be done. The doc who originally ordered the testing is no longer practicing, but someone has taken her place (he's an idiot; we have also discussed this). Can I have my son's pedi or pulm write the order for the additional testing to be run w/ the samples, if any, that were sent for the original testing?
We have talked several times and you told me my son's testing did not include a deletion/duplication, and that I should ask for that to be done. The doc who originally ordered the testing is no longer practicing, but someone has taken her place (he's an idiot; we have also discussed this). Can I have my son's pedi or pulm write the order for the additional testing to be run w/ the samples, if any, that were sent for the original testing?
It's impossible to 'completely rule out' CF through genetic testing, because the number of known mutations keeps increasing all the time, and the possibility always exists that someone has a mutation that has yet to be identified. (edited to correct an error.) That's why taking all of someone's symptoms & test results, not just one of them, into consideration is important in establishing a dx.
This happened with Emily. She has one DF508 but we don't know her 2nd mutation. Her doctors gave her a solid dx based on symptoms (growth failure/PI followed by excellent response to treatment with enzymes, positive sweat test, some milder respiratory stuff.) Hopefully someday we'll be able to figure out that 2nd mutation.
Find out if the test she had was the Ambry CF Amplified; there are 1,500+ mutations and this is the most comprehensive test you can get (this takes about a month to come back.) Oftentimes the dr. will only order a test checking for 100 or so mutations, which is not good enough in a situation like this...
I'm sure Steve will have much more for you; just wanted to give you our experience.
This happened with Emily. She has one DF508 but we don't know her 2nd mutation. Her doctors gave her a solid dx based on symptoms (growth failure/PI followed by excellent response to treatment with enzymes, positive sweat test, some milder respiratory stuff.) Hopefully someday we'll be able to figure out that 2nd mutation.
Find out if the test she had was the Ambry CF Amplified; there are 1,500+ mutations and this is the most comprehensive test you can get (this takes about a month to come back.) Oftentimes the dr. will only order a test checking for 100 or so mutations, which is not good enough in a situation like this...
I'm sure Steve will have much more for you; just wanted to give you our experience.
StevenKeiles
New member
Stringbean,
I would need to know what test she had and what was the mutation that was identified. Deciding on a diagnosis of CF is not just about one test so all of the information needs to be taken into consideration and not just the results of one test.
Also regarding testing for known or unknown mutations. The Ambry CF Amplified test analyzes the entire coding region of the CF gene and therefore can detect both known mutations and those mutations that have never been seen before. The detection rate is 99% but there is always a possibility that there is a mutation in part of the gene that is not analyzed which would be the non coding regions of the gene.
Steve
I would need to know what test she had and what was the mutation that was identified. Deciding on a diagnosis of CF is not just about one test so all of the information needs to be taken into consideration and not just the results of one test.
Also regarding testing for known or unknown mutations. The Ambry CF Amplified test analyzes the entire coding region of the CF gene and therefore can detect both known mutations and those mutations that have never been seen before. The detection rate is 99% but there is always a possibility that there is a mutation in part of the gene that is not analyzed which would be the non coding regions of the gene.
Steve
saveferris2009
New member
Steve I've been seeing quite a # of stories regarding Quest diagnostics.
I'm hoping you will comment on their research versus what Ambry does for testing for Cystic Fibrosis.
Here's an example of what I'm referring to:
<a target=_blank class=ftalternatingbarlinklarge href="http://snipurl.com/guu9u">http://snipurl.com/guu9u</a>
I'm hoping you will comment on their research versus what Ambry does for testing for Cystic Fibrosis.
Here's an example of what I'm referring to:
<a target=_blank class=ftalternatingbarlinklarge href="http://snipurl.com/guu9u">http://snipurl.com/guu9u</a>
StevenKeiles
New member
SaveFerris,
Quest has performing a standard 23 mutation panel for many years and has tested hundreds of thousands of patients over the years. They also do a sequence test but have not been doing that as long as Ambry and has not tested as many patients by sequencing. A lot of their research is based on their experience with the mutation panels. They have published some interesting case reports and useful information over the years especially since they have performed so many mutation panels. We have even co-published a case report on a deletion a couple of years ago.
At Ambry, we have analyzed well over 20,000 patients for a complete CF sequence analysis which is by far larger that any other single laboratory in the world. This has given us knowledge of the CFTR gene that no one can compare to. It also allows to have a sense of what mutations are common and what is more rare. One thing I can tell everyone is that outside of a handful of mutations they are all rare, some are just rarer than other.
thanks,
Steve
Quest has performing a standard 23 mutation panel for many years and has tested hundreds of thousands of patients over the years. They also do a sequence test but have not been doing that as long as Ambry and has not tested as many patients by sequencing. A lot of their research is based on their experience with the mutation panels. They have published some interesting case reports and useful information over the years especially since they have performed so many mutation panels. We have even co-published a case report on a deletion a couple of years ago.
At Ambry, we have analyzed well over 20,000 patients for a complete CF sequence analysis which is by far larger that any other single laboratory in the world. This has given us knowledge of the CFTR gene that no one can compare to. It also allows to have a sense of what mutations are common and what is more rare. One thing I can tell everyone is that outside of a handful of mutations they are all rare, some are just rarer than other.
thanks,
Steve
saveferris2009
New member
Very cool - I really appreciate you clarifying. Thanks!
stringbean
New member
Steve,
Thank you for getting back to me.
We saw the peditrician today and she doesn't have the full report. However, I believe she said they used Quest (?). My daughter has mutation N 5 UTR-152G.
Actually, I was asking a more general question (although anything you can tell me specifically about her mutation is GREATLY appreciated!!!) Her pulmonologist flatly said she does not have CF and I was under the impression that it couldn't be ruled out based solely on the genetics testing. Is there something about her particular mutation that leads the pulmonologist to believe there can't possibly be some other unknown mutation?
My daughter has had two borderline sweat tests and she is pancreatic insufficient, so I'm not comfortable completely ruling out CF -- especially considering all the stories I've read on this site from people whose symptoms didn't start until they were teens or even later.
Thanks SO MUCH for your input. I'm completely confused by this pulmonologist.
Thank you for getting back to me.
We saw the peditrician today and she doesn't have the full report. However, I believe she said they used Quest (?). My daughter has mutation N 5 UTR-152G.
Actually, I was asking a more general question (although anything you can tell me specifically about her mutation is GREATLY appreciated!!!) Her pulmonologist flatly said she does not have CF and I was under the impression that it couldn't be ruled out based solely on the genetics testing. Is there something about her particular mutation that leads the pulmonologist to believe there can't possibly be some other unknown mutation?
My daughter has had two borderline sweat tests and she is pancreatic insufficient, so I'm not comfortable completely ruling out CF -- especially considering all the stories I've read on this site from people whose symptoms didn't start until they were teens or even later.
Thanks SO MUCH for your input. I'm completely confused by this pulmonologist.
Hi Steve,
Just got the results for Ben's sweat test. One arm was 36 and the other 40. From your responses to other posts, it seems he is a good candidate for genetic testing. Would that be your recommendation? Also, if there is an issue with getting insurance to cover it with these sweat test numbers, do you have any literature/documentation to help persuade them?
Thanks,
Donna
Just got the results for Ben's sweat test. One arm was 36 and the other 40. From your responses to other posts, it seems he is a good candidate for genetic testing. Would that be your recommendation? Also, if there is an issue with getting insurance to cover it with these sweat test numbers, do you have any literature/documentation to help persuade them?
Thanks,
Donna
StevenKeiles
New member
Stringbean,
I am not sure what I can really add, as it is the pulmonologist who would be the best one to make the call. This variant we have only seen one time and I am guessing it is your daughter who we found it in.
since we have not seen it in anyone before, we really can't say much about it and it is in a part of the gene that is not well understood and does have many variants that are not significant.
Obviously the clinical picture is a little confusing, so I would ask if it is not CF what do they think it is or is that what they are trying to figure out now. Unfortunately in many cases you aren't able to come up with an exact answer.
Sorry I could not be more helpful. I wish you the best of luck.
Steve
I am not sure what I can really add, as it is the pulmonologist who would be the best one to make the call. This variant we have only seen one time and I am guessing it is your daughter who we found it in.
since we have not seen it in anyone before, we really can't say much about it and it is in a part of the gene that is not well understood and does have many variants that are not significant.
Obviously the clinical picture is a little confusing, so I would ask if it is not CF what do they think it is or is that what they are trying to figure out now. Unfortunately in many cases you aren't able to come up with an exact answer.
Sorry I could not be more helpful. I wish you the best of luck.
Steve
StevenKeiles
New member
Donna,
Yes, I would definitely recommend genetic testing with a full sequence test and usually insurance coverage would not be a problem, but there are always exceptions. You can have it checked out first to see about your coverage.
Steve
Yes, I would definitely recommend genetic testing with a full sequence test and usually insurance coverage would not be a problem, but there are always exceptions. You can have it checked out first to see about your coverage.
Steve