Steven, I am 28 with cf (DF508 & G551D) and delivered a healthy baby boy in July. My husband tested negative for 89 mut's through Genzyme in '04. Recently, I contacted Hospital of the Univ. of Penn's genetics department to get things rolling for cf testing since we can't be sure that our son doesn't have cf with only having tested my husband for 89 mutations. They told me that they used to use Ambry but now use Genzyme that now Genzyme tests for just as many. I've heard you mention Quest being just as conclusive but is Genzyme also now up to par? Please comment.
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Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
StevenKeiles
New member
Marie,
Well, first of all, the M470V is similar to the R75Q, a polymorphism that is, a non disease causing variant. There are some published reports that call R75Q a mutation, my evidence does not support that. Also the 7T/9T and TG repeats are of no significance. Only when there is a 5T does the TG matter.
From this result it looks like they only found one mutation, I would ask if deletion testing was done, if not it should be. Also I do not think testing you and your husband would really provide any additional information.
I see her symptoms, but I did not see a sweat test result, If her sweats were positive, deletion testing should definitely be considered.
I hope that helps, sorry for the delayed response, it has been a busy week for me.
Steve
Well, first of all, the M470V is similar to the R75Q, a polymorphism that is, a non disease causing variant. There are some published reports that call R75Q a mutation, my evidence does not support that. Also the 7T/9T and TG repeats are of no significance. Only when there is a 5T does the TG matter.
From this result it looks like they only found one mutation, I would ask if deletion testing was done, if not it should be. Also I do not think testing you and your husband would really provide any additional information.
I see her symptoms, but I did not see a sweat test result, If her sweats were positive, deletion testing should definitely be considered.
I hope that helps, sorry for the delayed response, it has been a busy week for me.
Steve
StevenKeiles
New member
Lauren,
Genzyme does do CFTR sequencing now, but as they stated they have not been doing it that long. I am not sure how long it takes to get results and I do know that they do not have the experience or the database of mutations that we have. We are often able to answer questions about rare mutations because we have seen them many times whereas other labs keep finding something they have not seen before.
If the test is negative, it would be just as helpful though.
Good luck,
Steve
Genzyme does do CFTR sequencing now, but as they stated they have not been doing it that long. I am not sure how long it takes to get results and I do know that they do not have the experience or the database of mutations that we have. We are often able to answer questions about rare mutations because we have seen them many times whereas other labs keep finding something they have not seen before.
If the test is negative, it would be just as helpful though.
Good luck,
Steve
JennifersHope
New member
Steve,
Just wanted to know, how your cute little baby is doing???
Thanks again for being such a valuable resource to us..
Jennifer
Just wanted to know, how your cute little baby is doing???
Thanks again for being such a valuable resource to us..
Jennifer
StevenKeiles
New member
Jennifer,
Thanks very much, the baby is doing very well. She has quite an appetite and has already more than double her weight in just over two months.
LMK,
The 5T/12TG is like a mild to moderate mutation. Don't really know how to fit it into a class. I actually don't pay any attention to mutation class because there is a lot of variability with all mutations. I am sure there are some Class I,II and III mutations that are milder as well. Typically the class IV and V mutations tend to be the milder ones, but then again there are probably some in those groups that are more significant.
Steve
Thanks very much, the baby is doing very well. She has quite an appetite and has already more than double her weight in just over two months.
LMK,
The 5T/12TG is like a mild to moderate mutation. Don't really know how to fit it into a class. I actually don't pay any attention to mutation class because there is a lot of variability with all mutations. I am sure there are some Class I,II and III mutations that are milder as well. Typically the class IV and V mutations tend to be the milder ones, but then again there are probably some in those groups that are more significant.
Steve
Genetics testing
Hi Steve,
I got my test results back for the 12 mutations tested and all were negative. Those checked were as follows, based on the fact that I am an Ashkenazi Jew ...
1717+1G->A
3849
D1152H
G542X
N1303K
W1282X
delF508
405+1G->A
G85E
S549R
W1089X
5T
In how many cases (or what percentage) of Ashkenazi Jews specifically who had no mutations in a panel such as this did you end up finding two rarer mutations? I am asking because I was just told by a geneticist that no more testing is required. He says that according to the panel above I can 100% rule out CF. Without some concrete statistics I am not going to success in getting further testing.
Thanks for your help!
Hi Steve,
I got my test results back for the 12 mutations tested and all were negative. Those checked were as follows, based on the fact that I am an Ashkenazi Jew ...
1717+1G->A
3849
D1152H
G542X
N1303K
W1282X
delF508
405+1G->A
G85E
S549R
W1089X
5T
In how many cases (or what percentage) of Ashkenazi Jews specifically who had no mutations in a panel such as this did you end up finding two rarer mutations? I am asking because I was just told by a geneticist that no more testing is required. He says that according to the panel above I can 100% rule out CF. Without some concrete statistics I am not going to success in getting further testing.
Thanks for your help!
StevenKeiles
New member
Genetics testing
Nervous,
First of all I would never say 100% about anything. Most Ashkenazi people with CF will carry two of about 5 or 6 common mutations. Some will only carry one of the more common ones and one rarer one and a small percentage will carry two rare ones.
I do have several patients that have CF with two mutations that are not on that list. But that is a small percentage of the overall number of patients that I have. However to me a negative panel, regardless of ethnic background is just not that reassuring.
Steve
Nervous,
First of all I would never say 100% about anything. Most Ashkenazi people with CF will carry two of about 5 or 6 common mutations. Some will only carry one of the more common ones and one rarer one and a small percentage will carry two rare ones.
I do have several patients that have CF with two mutations that are not on that list. But that is a small percentage of the overall number of patients that I have. However to me a negative panel, regardless of ethnic background is just not that reassuring.
Steve
larasmommy
New member
Genetics testing
Hi Steve
Laras sweat was 49. She is pancreatic sufficient, but has Staph. So with the sweat results and the lung problems and only 1 mutation and 1 variant, is this why they call her atypical? or are you saying she is just a carrier? or would the deletion testing tell me that? (and I thought I was confused before). Or do opinions over what is a mutation(r75q) and what is not, differ?
Thanks,
Marie
Hi Steve
Laras sweat was 49. She is pancreatic sufficient, but has Staph. So with the sweat results and the lung problems and only 1 mutation and 1 variant, is this why they call her atypical? or are you saying she is just a carrier? or would the deletion testing tell me that? (and I thought I was confused before). Or do opinions over what is a mutation(r75q) and what is not, differ?
Thanks,
Marie
StevenKeiles
New member
Genetics testing
Marie,
There are a couple of things going on. First, there is often some question about interpretation of variants v. mutations. especially with some variants. Most are actually pretty well defined.
First, it is possible that she does carry a second mutation that is just undetectable, or if you have not had deletion testing, it could be a deletion.
Another possibility is that some "carriers" do have symptoms, maybe she is a carrier but with enough other significant genetics to increase her suceptability to symptoms. The other genetics I speak of, have not been worked out and it good be several more years until this is better understood.
I hope that helps.
Steve
Marie,
There are a couple of things going on. First, there is often some question about interpretation of variants v. mutations. especially with some variants. Most are actually pretty well defined.
First, it is possible that she does carry a second mutation that is just undetectable, or if you have not had deletion testing, it could be a deletion.
Another possibility is that some "carriers" do have symptoms, maybe she is a carrier but with enough other significant genetics to increase her suceptability to symptoms. The other genetics I speak of, have not been worked out and it good be several more years until this is better understood.
I hope that helps.
Steve
StevenKeiles
New member
Steven (Ambry)
Alexsmom,
I would say very unlikely, usually the ones where we find an atypical form of CF have sweats in the borderline or high normal range, such as over 30.
Anything is possible, but I would say if a reliable sweat test was in single digits it is very unlikely we will find anything.
Steve
Alexsmom,
I would say very unlikely, usually the ones where we find an atypical form of CF have sweats in the borderline or high normal range, such as over 30.
Anything is possible, but I would say if a reliable sweat test was in single digits it is very unlikely we will find anything.
Steve
hello,
My son has just had a blood draw for 40 mutations that is being sent to Mayo clinic. My GI told me that she was ordering the full panel, but since she is at the children's hospital 2 hours away she deferred the test to my pedi - who only ordered the 40 mutation one. I even asked the nurse if they were ordering the ambry and she said yes, so I was very upset to hear at the lab that it was only the 40 mutation one.
Are they checking for the 40 most common mutations or 40 random ones? Is this test a waste of time? Do you know how long that one will take?
Thank you so much for any info!
My son has just had a blood draw for 40 mutations that is being sent to Mayo clinic. My GI told me that she was ordering the full panel, but since she is at the children's hospital 2 hours away she deferred the test to my pedi - who only ordered the 40 mutation one. I even asked the nurse if they were ordering the ambry and she said yes, so I was very upset to hear at the lab that it was only the 40 mutation one.
Are they checking for the 40 most common mutations or 40 random ones? Is this test a waste of time? Do you know how long that one will take?
Thank you so much for any info!
A
aqua8522
Guest
HI STEVE, I SPOKE TO YOU ONCE AND GAVE YOU MY DAUGHTERS GENETICS 1716G>A, 4404C>T,1540A>G AND 2694>G 7T AND 7T . WELL MY TESTING CAME BACK AND MINE WAS DELTA 508 AND 1716G>A . 7T9T . THEY SAID I HAVE CF. FROM WHAT I READ NEITHER OF US DO. SHE IS THE ONE WITH A PANCRTITIST HISTORY, MUCUS IN THE SALIVARY GLAND A BORDERLINE SWEAT OF 52 AND DEHYDRATION. I AM 55 AND HAVE NEVER BEEN SICK. HOW EVER MY BROTHER IS MORE LIKE MY DAUGHTER. HE PLANS TO GET TESTED, SO DOES MY HUSBAND SINCE HE MUST CARRY THE OTHER GENE SHE HAS. I DO HAVE 2 OTHER KIDS WITH TIREDNESS AND ONE WITH MORE RESPIRTORY PROBLEMS . MY QUESTION IS DO I HAVE CF AS THEY SAY? THNAKS PAM
StevenKeiles
New member
Mom of Five,
There are only a few mutations that are common, this panel is not the 40 most common mutations, it is more random. Wait and see how the results come back. If it is negative or only one mutation, I would recommend the Ambry Test. If it is positive, then you don't need any more testing. Those tests usually take 2 or 3 weeks at the most.
Pam,
The only mutation that you mentioned in that list is the deltaF508, all of the others are common variants that are not disease causing, so I am not really sure how to answer the question other than to say your daughter did not inherit your deltaF508 and since you are healthy you probably don't have a CF mutation on the other chromosome, therefore your daughter inherited the normal CF gene from you. I am not sure how they are interpreting these results, but I would question why they think you do, obviously your daughter has CF like symptoms but it looks like they are not caused by CF mutations since she doesn't carry any CF mutations.
Steve
There are only a few mutations that are common, this panel is not the 40 most common mutations, it is more random. Wait and see how the results come back. If it is negative or only one mutation, I would recommend the Ambry Test. If it is positive, then you don't need any more testing. Those tests usually take 2 or 3 weeks at the most.
Pam,
The only mutation that you mentioned in that list is the deltaF508, all of the others are common variants that are not disease causing, so I am not really sure how to answer the question other than to say your daughter did not inherit your deltaF508 and since you are healthy you probably don't have a CF mutation on the other chromosome, therefore your daughter inherited the normal CF gene from you. I am not sure how they are interpreting these results, but I would question why they think you do, obviously your daughter has CF like symptoms but it looks like they are not caused by CF mutations since she doesn't carry any CF mutations.
Steve
A
Aspiemom
Guest
Genetics testing
My questions is how many
of you have two uncommon mutations vs one common and one uncommon
or both common?
I have deltaF508 and 3849+10kb C to T, and Polymorphism : 7T/9T variant (whatever that is)
My questions is how many
of you have two uncommon mutations vs one common and one uncommon
or both common?
I have deltaF508 and 3849+10kb C to T, and Polymorphism : 7T/9T variant (whatever that is)
A
Aspiemom
Guest
Steve, I don't have time right now to read all of the pages of questions and answers to you, so I hope I don't repeat something you've answered.
I have Adult CF. My brother and his family are missionaries in the Marshall Islands where they do not have a doctor or any type of reliable hospital care. There is a hospital building, but no staff - weird, eh? Anyway, their 15 y/o son has been having a lot of respiratory health problems that seem ongoing and because of my dx they would like to have him tested for CF.
They aren't sure how to go about it. I told them they probably need to wait until he's home in the States, although that's another year away. I also said their "home family doctor" in SC should have an Ambry Kit on hand and order the labs and send them to you. Have I instructed them correctly? Do you have any other advice in how he could be tested?
I have Adult CF. My brother and his family are missionaries in the Marshall Islands where they do not have a doctor or any type of reliable hospital care. There is a hospital building, but no staff - weird, eh? Anyway, their 15 y/o son has been having a lot of respiratory health problems that seem ongoing and because of my dx they would like to have him tested for CF.
They aren't sure how to go about it. I told them they probably need to wait until he's home in the States, although that's another year away. I also said their "home family doctor" in SC should have an Ambry Kit on hand and order the labs and send them to you. Have I instructed them correctly? Do you have any other advice in how he could be tested?
StevenKeiles
New member
Debbie,
We do receive samples from around the world. The blood can be drawn and shipped to us from anywhere, and they can put their hometown doctor as the ordering physician. have them contact me directly if they need more information.
Steve
We do receive samples from around the world. The blood can be drawn and shipped to us from anywhere, and they can put their hometown doctor as the ordering physician. have them contact me directly if they need more information.
Steve