S
SarahProcter
Guest
Hello,
Can you tell me anything about what class of mutation S1159P is?
Thanks,
// Sarah
Can you tell me anything about what class of mutation S1159P is?
Thanks,
// Sarah
Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
RebekahsMom
New member
Steve,
My daughters mutations are DF508 & R1158X1. Just 3 months ago, she was classified as moderately severe after having her first bronch done. (She is 7, and we recently switched clinics. I felt her original clinic wasn't being as proactive as they needed to be.) We had always thought she had a mild case. Can you tell me a little bit about the possible severity of these mutations together?
Also, is it possible she started with a mild case but now is classified as moderately severe? Or is it possible she has always had a moderately severe case but we didn't know it until she had her bronch? I understand that cf is progressive, and that she will have more and more issues as she gets older.
One more question. If she doesn't do her breathing treatments (every other weekend she might get them once or twice) on a regular basis, how will that affect her? Can it actually change her from a mild case to a moderately severe case??? Just need to get my facts straight before I go to court.
Thanks.
My daughters mutations are DF508 & R1158X1. Just 3 months ago, she was classified as moderately severe after having her first bronch done. (She is 7, and we recently switched clinics. I felt her original clinic wasn't being as proactive as they needed to be.) We had always thought she had a mild case. Can you tell me a little bit about the possible severity of these mutations together?
Also, is it possible she started with a mild case but now is classified as moderately severe? Or is it possible she has always had a moderately severe case but we didn't know it until she had her bronch? I understand that cf is progressive, and that she will have more and more issues as she gets older.
One more question. If she doesn't do her breathing treatments (every other weekend she might get them once or twice) on a regular basis, how will that affect her? Can it actually change her from a mild case to a moderately severe case??? Just need to get my facts straight before I go to court.
Thanks.
I have two children with CF symptoms, and both had negative sweat tests.
My 9 year old's bloodwork was went to Ambry and no mutuations were found, but she did have a 5T variant.
My 11 year old, whose lung disease is more severe and also has failure to thrive, blood work was sent to Quest from the same hospital. I am not sure why that happened. However, her bloodwork went to 3 levels of Quest testing and the final level was deletions and duplications. She tested positive for G542X mutations, and her poly T status on intron 8 7T/9T adn TG status is 11/10, also she had two polymorphisms c.-8G>C and p.Met470Val. Her sweat test at age 4 was negative. Her Nasal Potential Difference test showed normal baseline but significant decrease in CFTR function. Her pulmonologist is debating on a diagnosis and wants us to repeat the Nasal Potential Different in 4 weeks.
For our 11 yesar old is there any more information we could receive from the Ambry genetic test than we received from Quest?
Jen
My 9 year old's bloodwork was went to Ambry and no mutuations were found, but she did have a 5T variant.
My 11 year old, whose lung disease is more severe and also has failure to thrive, blood work was sent to Quest from the same hospital. I am not sure why that happened. However, her bloodwork went to 3 levels of Quest testing and the final level was deletions and duplications. She tested positive for G542X mutations, and her poly T status on intron 8 7T/9T adn TG status is 11/10, also she had two polymorphisms c.-8G>C and p.Met470Val. Her sweat test at age 4 was negative. Her Nasal Potential Difference test showed normal baseline but significant decrease in CFTR function. Her pulmonologist is debating on a diagnosis and wants us to repeat the Nasal Potential Different in 4 weeks.
For our 11 yesar old is there any more information we could receive from the Ambry genetic test than we received from Quest?
Jen
We got our son's tests back from Ambry a while ago and they had the 7T/9T variant. When he had other testing done at Mayo, they also commented that he had polymorphisms. Can you tell me why Ambry wouldn't have also shown this? Maybe I am reading something incorrectly?
And, for us but so many others out there as well, can you comment on the possibility of combinations of polymorphisms and variants being disease causing? What would we as parents have to do to have scientists/doctors study this possibility more often if our kids are symptomatic? What has the process been when a combination previously thought to be benign then becomes known to be disease causing?
Thanks a million!
And, for us but so many others out there as well, can you comment on the possibility of combinations of polymorphisms and variants being disease causing? What would we as parents have to do to have scientists/doctors study this possibility more often if our kids are symptomatic? What has the process been when a combination previously thought to be benign then becomes known to be disease causing?
Thanks a million!
StevenKeiles
New member
Sorry for the delays. I have been traveling much of the last month and trying to catch up in the office. I will get to all you answers over the next day or two.
Thanks for your patience.
Steve
Thanks for your patience.
Steve
StevenKeiles
New member
Aleksandra,
I cannot comment on the medical presentation and interpretation from your physicians. I can tell you that the 3849+10kb mutation does tend to be a little milder and not a classic mutation so patients who have this as one of their mutations usually don't present with classic CF.
They can do very well but still need to be followed. I wish the best of luck.
Hana,
I have never seen your exact combination of mutations, so unfortunately I cannot really add any more information and each person is variable even with the same mutations.
Best of luck,
Steve
I cannot comment on the medical presentation and interpretation from your physicians. I can tell you that the 3849+10kb mutation does tend to be a little milder and not a classic mutation so patients who have this as one of their mutations usually don't present with classic CF.
They can do very well but still need to be followed. I wish the best of luck.
Hana,
I have never seen your exact combination of mutations, so unfortunately I cannot really add any more information and each person is variable even with the same mutations.
Best of luck,
Steve
StevenKeiles
New member
Jen,
Since they did the three levels of testing at Quest that is similar to what we do here so I do not see any advantage to doing our test. Their first level is not that comprehensive and that is what is often done.
Steve
Mom2Owen
At Ambry we only report polymorphisms if they are requested by the MD. By definition these are not disease causing and we feel it only causes more confusion when putting them on the report. I have seen many times that they are misinterpreted, and our goal is to have a clear concise report that the physician can easily interpret.
It is more likely that something would change from disease causing to probably not disease causing than the other way around. If there is question then it gets reported as a variant of uncertain significance until more information is obtained.
Steve
Since they did the three levels of testing at Quest that is similar to what we do here so I do not see any advantage to doing our test. Their first level is not that comprehensive and that is what is often done.
Steve
Mom2Owen
At Ambry we only report polymorphisms if they are requested by the MD. By definition these are not disease causing and we feel it only causes more confusion when putting them on the report. I have seen many times that they are misinterpreted, and our goal is to have a clear concise report that the physician can easily interpret.
It is more likely that something would change from disease causing to probably not disease causing than the other way around. If there is question then it gets reported as a variant of uncertain significance until more information is obtained.
Steve
StevenKeiles
New member
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 cause a mild to moderate form of CF, but in many cases symptoms may not start for months, years or even decades. Best to get each child genetically tested for these to be sure.
Regarding the baby, you could test for these during the pregnancy if you want to have an amnio or you could just have it done right after delivery. I would recommend meeting with a local genetic counselor if you want to discuss the options in more detail and pursue testing during the pregnancy.
since you are both carriers that would give a 25% chance for this baby to be affected. Which also means that most likely it won't be (75%).
good luck to all of you and best to get your runs in now.
Steve
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 cause a mild to moderate form of CF, but in many cases symptoms may not start for months, years or even decades. Best to get each child genetically tested for these to be sure.
Regarding the baby, you could test for these during the pregnancy if you want to have an amnio or you could just have it done right after delivery. I would recommend meeting with a local genetic counselor if you want to discuss the options in more detail and pursue testing during the pregnancy.
since you are both carriers that would give a 25% chance for this baby to be affected. Which also means that most likely it won't be (75%).
good luck to all of you and best to get your runs in now.
Steve
StevenKeiles
New member
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 more helpful.
Collin's Mom,
There is no relation, they are all random unrelated events. One has no effect on the other.
Steve
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 more helpful.
Collin's Mom,
There is no relation, they are all random unrelated events. One has no effect on the other.
Steve
Thanks a lot Steve. I did ask Mayo for his list of polymorphisms but have not gotten it. Any chance I could get it from Ambry? I understand what you are saying but I also know of doctors who recognize that with all there is to learn, when kids show certain combinations and symptoms, there may be a connection. I just want his complete information so we can be thourough in our assessment and diagnosis.
Thanks again!
Thanks again!
AleksandraKaczynska
New member
Steve - thank you.
Hi- Our son was recently diagnosed with CF and we're having a challenging time getting an idea of what the range of symptoms/presentations/ages of onset may be with his particular mutations. They are: F1052V, which seems to be a mixed bag, mostly problematic when paired with a severe gene; and C812T>G, a promoter that we believe has only been seen one time before, with an Fdelta. He's pancreatic sufficient, low (not even borderline) sweat test. We're particularly curious about the second mutation... whether there's any significance to having a promoter mutation paired with a mild mutation vs. two mild mutations; whether there's anyway to know whether there might be other mutations with similarities to it that might provide at least some guide to what to expect; and/or any other types of ways of gauging what we're dealing with. With the understanding, of course, that there's going to be uncertainty no matter what. Another one of our questions is: Is there anything broad that can be said simply about having two Class V mutations? It seems that some cases said to be mild/nonclassic/mild involve at least one classic mutation. Any insight would be greatly appreciated. Thanks so much
mommy2mickie
New member
This is great to have Ambry on board! I am curious, I'm in the medical field, but I'm no means a genetic expert! My daughter has had three borderline sweat chloride tests ranging from 41-53 over the past four years and has been diagnosed with a mild form of CF. However, she had the Ambry CTFR Full Gene Panel run in 2008, which showed no mutations, no novel variants and a 7T/7T poly T variant. Can you interpret this for me? I had one pulmonologist state that just because this showed up, doesn't mean they can rule out CF, based on the symptoms and the SC test that she's had.
Thanks so much!!
Thanks so much!!
RebekahsMom
New member
Hi Steve,
I posted a question during the time you were away, and I guess you didn't see it when you got back. It's dated 4/4/11. Can you please advise??
I posted a question during the time you were away, and I guess you didn't see it when you got back. It's dated 4/4/11. Can you please advise??
Hi Steve, my newborn son has positive screen for CF, with an IRT of 79.1 and one mutation detected (dF508). The analysis they used is called the TM Bioscience Tag-it CFTR 39+3 mutation Kit. Does this mean he was checked for 42 of the 1500 mutations (the most common ones)? Is it still possible that he is homozygous for dF508 or is this ruled out since only one mutation was detected? What are the odds of him having CF rather than being a carrier?
We have no CF cases in our family, my son has four older healthy siblings (who have never been tested, since CF was added to the Newborn screen after they were born).
If my son has CF or is a carrier should his siblings be tested as well?
Thanks,
Johanna
We have no CF cases in our family, my son has four older healthy siblings (who have never been tested, since CF was added to the Newborn screen after they were born).
If my son has CF or is a carrier should his siblings be tested as well?
Thanks,
Johanna
Steve,
I'm new to this site. I already posted this in the family forum. What are the chances of someone having two rare CF mutations? My daughter is being tested and the first round of genetic testing has come back and she doesn't have any of the most common 92 mutations.
A little history, she's failure to thrive, however, her fecal elastase came back normal. She's had chronic constipation since infancy probably from a redundant colon but i don't know if she was born with a redundant colon or if she developed it from constipation. She's had two borderline sweat test the first one was 41 and the second one was 50. I never thought she had CF, but now worried because of the borderline sweat test. My Mom's cousin had Cf. My Mom had pulmonary fibrosis with sever GI problems. She has no respiratory problems now but the first two years of her life she had lots respiratory infections. She does have croup about 2x /year.
My thoughts are she probably doesn't have Cf, but I can't stop thinking about the borderline sweat test. The wait is driving me crazy!
Do you have statistics on someone having two rare CF gene mutations?
Thank you for your time and help.
I'm new to this site. I already posted this in the family forum. What are the chances of someone having two rare CF mutations? My daughter is being tested and the first round of genetic testing has come back and she doesn't have any of the most common 92 mutations.
A little history, she's failure to thrive, however, her fecal elastase came back normal. She's had chronic constipation since infancy probably from a redundant colon but i don't know if she was born with a redundant colon or if she developed it from constipation. She's had two borderline sweat test the first one was 41 and the second one was 50. I never thought she had CF, but now worried because of the borderline sweat test. My Mom's cousin had Cf. My Mom had pulmonary fibrosis with sever GI problems. She has no respiratory problems now but the first two years of her life she had lots respiratory infections. She does have croup about 2x /year.
My thoughts are she probably doesn't have Cf, but I can't stop thinking about the borderline sweat test. The wait is driving me crazy!
Do you have statistics on someone having two rare CF gene mutations?
Thank you for your time and help.
Steve, following up on my post above:
Our second mutation apparently (may?) go by three different names... C812T>G and 741T>G as well as 680T>G... Is this possible? The first two are linked as the same names for the same mutation in a variety of places, but the third one doesn't appear to be linked to other two except in our Quest report. Please help, this confusion is making things worse.
Our second mutation apparently (may?) go by three different names... C812T>G and 741T>G as well as 680T>G... Is this possible? The first two are linked as the same names for the same mutation in a variety of places, but the third one doesn't appear to be linked to other two except in our Quest report. Please help, this confusion is making things worse.
