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Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
mom2my3kids
New member
Steven (Ambry)
Well we received the official test results for my son Xander who is 9 weeks old. They told me over the phone that he does have CF and set our first clinic date for Dec. 1st. They did try and explain the results but I guess it would easier in person. They would send them to me for my records. Well they make absolutely no sense so I thought you all could help figure them out...
They say the following: Two alterations, both predicted to be deleterious:
1)A heterozygous deletion of CTT at nucleotide 1653-1655 resulting in an in-frame deletion at codon 508 in exon 10 of the CFTR gene (1653-1655 del CTT, F508del)
2) The 5/7T and 10TG/12TG intron 8 variants were detected.
Two changes from the "normal" or wild type of the CFTR gene were detected inthis sample.
Anyone know what this means exactly?
Thanks!
Well we received the official test results for my son Xander who is 9 weeks old. They told me over the phone that he does have CF and set our first clinic date for Dec. 1st. They did try and explain the results but I guess it would easier in person. They would send them to me for my records. Well they make absolutely no sense so I thought you all could help figure them out...
They say the following: Two alterations, both predicted to be deleterious:
1)A heterozygous deletion of CTT at nucleotide 1653-1655 resulting in an in-frame deletion at codon 508 in exon 10 of the CFTR gene (1653-1655 del CTT, F508del)
2) The 5/7T and 10TG/12TG intron 8 variants were detected.
Two changes from the "normal" or wild type of the CFTR gene were detected inthis sample.
Anyone know what this means exactly?
Thanks!
StevenKeiles
New member
Steven (Ambry)
I would have the lab double check the results, because usually with a deltaF508 it is on a 9T chromosome and then you would know the 5T is on the other chromosome. It is also helpful to know which TG is with the 5T since when you have a 5t/12TG it would be more significant then with 10 or 11 TG's.
But basically the combo of a deltaF508 and a 5T does result in a mild to moderate form of CF. The results you listed are just a technical way to say a deltaF508 and a 5T.
Steve
I would have the lab double check the results, because usually with a deltaF508 it is on a 9T chromosome and then you would know the 5T is on the other chromosome. It is also helpful to know which TG is with the 5T since when you have a 5t/12TG it would be more significant then with 10 or 11 TG's.
But basically the combo of a deltaF508 and a 5T does result in a mild to moderate form of CF. The results you listed are just a technical way to say a deltaF508 and a 5T.
Steve
jeffjohn01
New member
Steven (Ambry)
(Originally posted in 'Newly Diagnosed' section)
Hello Everyone,
My wife Laura and I just found out today that our baby boy, due in April '09, has indeed been passed two mild mutations of the CF gene from us. This is all very new to us and I'm hoping I can get some answers on a few basic questions. We are scheduled for a follow-up visit with our genetic specialist in a week to ask any/all questions, but I can't wait that long and was hoping to get more information from this community.
I was told the mild mutations (S1235R/R668C) typically manifest themselves in some form of pancreatic insufficiency. However, before I even begin to learn how to prepare for treatment, I have some questions.
1). Does a diagnosis of two mild mutations being passed to our child guarantee he will have some form of CF?
2). I've read that mild mutations sometimes don't manifest as respiratory or pancreatic ailments, is this true?
3). Asthma, bronchitis and other 'non-CF' issues can be a result of mutated CF genes, true? So, my child may have respiratory issues that are NOT a form of CF per say?
4). Can anyone point me to a resource for statistics on my specific mutations? Also, can anyone tell me what the odds are for my boy, even with confirmed passing of two mild mutations, NOT to have any form of CF at all?
This will really help Laura and I better understand what it is we need to be prepared for come April.
Thank you very much and I apologize if these questions have been answered elsewhere in the forums. I'm new and have not had a chance to read/search all areas yet.
Jeff
(Originally posted in 'Newly Diagnosed' section)
Hello Everyone,
My wife Laura and I just found out today that our baby boy, due in April '09, has indeed been passed two mild mutations of the CF gene from us. This is all very new to us and I'm hoping I can get some answers on a few basic questions. We are scheduled for a follow-up visit with our genetic specialist in a week to ask any/all questions, but I can't wait that long and was hoping to get more information from this community.
I was told the mild mutations (S1235R/R668C) typically manifest themselves in some form of pancreatic insufficiency. However, before I even begin to learn how to prepare for treatment, I have some questions.
1). Does a diagnosis of two mild mutations being passed to our child guarantee he will have some form of CF?
2). I've read that mild mutations sometimes don't manifest as respiratory or pancreatic ailments, is this true?
3). Asthma, bronchitis and other 'non-CF' issues can be a result of mutated CF genes, true? So, my child may have respiratory issues that are NOT a form of CF per say?
4). Can anyone point me to a resource for statistics on my specific mutations? Also, can anyone tell me what the odds are for my boy, even with confirmed passing of two mild mutations, NOT to have any form of CF at all?
This will really help Laura and I better understand what it is we need to be prepared for come April.
Thank you very much and I apologize if these questions have been answered elsewhere in the forums. I'm new and have not had a chance to read/search all areas yet.
Jeff
JENNYLEE202020
New member
ok so im still kind of new to this... my son is 2 and has double dealt f508, what is this test you are talking about and what will it show us? any other info on ddf508 would be great!
thanks so much!!!
jenny
thanks so much!!!
jenny
JENNYLEE202020
New member
i am not sure how to check to see if you responded could you please send me a pm? thankyou so so much!
jenny
jenny
StevenKeiles
New member
Jenny,
All tests would check for the deltaF508 mutation, I am not sure what other tests you are referring to. The deltaF508 is the most common mutaton, it can cause moderate to severe CF but everyone is different so there is no way to know for sure.
best of luck,
Steve
All tests would check for the deltaF508 mutation, I am not sure what other tests you are referring to. The deltaF508 is the most common mutaton, it can cause moderate to severe CF but everyone is different so there is no way to know for sure.
best of luck,
Steve
StevenKeiles
New member
Steven (Ambry)
jeff,
CF is a spectrum disorder, so you can have a mild or severe form of the same disease caused by different mutations in the same gene. These two mutations are generally considered milder and together could result in a very mild to moderate form of CF. It is also possible to have few if any symptoms in childhood, however there is always a risk for symptoms to develop at any time. I would rely on the evaluation and recommendations from the CF clinic.
Best of luck,
Steve
jeff,
CF is a spectrum disorder, so you can have a mild or severe form of the same disease caused by different mutations in the same gene. These two mutations are generally considered milder and together could result in a very mild to moderate form of CF. It is also possible to have few if any symptoms in childhood, however there is always a risk for symptoms to develop at any time. I would rely on the evaluation and recommendations from the CF clinic.
Best of luck,
Steve
S
SarahProcter
Guest
Steven (Ambry)
Hello -
My daughter was tested in California as part of the state newborn screening process. Her results were that she had delta F508 and S1159P. S1159P seems to be quite rare - do you have any record of how many instances of S1159P your company has detected?
Thank you.
Hello -
My daughter was tested in California as part of the state newborn screening process. Her results were that she had delta F508 and S1159P. S1159P seems to be quite rare - do you have any record of how many instances of S1159P your company has detected?
Thank you.
aliciagwen
New member
Steve,
My daughter (almost 3) has double Delta f508, diagnosed in a newborn screen. She has been relatively healthy, having had a few exacerbations, definite pancreatic insufficiency, but no hospitalizations. I'm trying to be an educator and advocate for CF to those I know. And I'm curious...
I realize that even "double deltas" have a huge range in health, but are there any other mutations that are known for causing more severe CF than 508 does? It seems that every mutation I hear of is either the same range as 508 or a milder version. Any input is appreciated.
My daughter (almost 3) has double Delta f508, diagnosed in a newborn screen. She has been relatively healthy, having had a few exacerbations, definite pancreatic insufficiency, but no hospitalizations. I'm trying to be an educator and advocate for CF to those I know. And I'm curious...
I realize that even "double deltas" have a huge range in health, but are there any other mutations that are known for causing more severe CF than 508 does? It seems that every mutation I hear of is either the same range as 508 or a milder version. Any input is appreciated.
aliciagwen
New member
Okay, I have thought of another question that may be outside your realm, but I appreciate your expertise and think you may be able to point me in the right direction. Of course we are thankful that the median life expectancy for CF is now 37. Is anyone tracking the median life expectancy by specific gene mutations? More specifically (since it's what my daughter has and the most common), is there another life expectancy age for those who are double delta f508?
StevenKeiles
New member
Alicia,
It is not just the specific mutation that determines the severity of the disease. There are other modifying factors that we do not fully understand at this point. So whether the mutations are both deltaF or some other combination of severe mutations, the range and course of the disease would be the same. And since it can vary even among siblings, there is no way to know exactly for any one person.
Therefore, regarding life expectancy, I would think it has more to do with better treatments and therapies available then the exact type of mutation. In reality, if you have milder disease you would probably have a difference expectation about survival, but I am not exactly sure how that would be calculated based specifically on which mutations you carry. I think it is best to think of each case individually and know there is a range that includes the median.
One other point is that the if the median age is now 37, those people were born in the 70's without the benefit of todays medicine. I would think those born in the 80's and 90's would be expected to do even better and so on.
Best of luck to you and your daughter.
Steve
It is not just the specific mutation that determines the severity of the disease. There are other modifying factors that we do not fully understand at this point. So whether the mutations are both deltaF or some other combination of severe mutations, the range and course of the disease would be the same. And since it can vary even among siblings, there is no way to know exactly for any one person.
Therefore, regarding life expectancy, I would think it has more to do with better treatments and therapies available then the exact type of mutation. In reality, if you have milder disease you would probably have a difference expectation about survival, but I am not exactly sure how that would be calculated based specifically on which mutations you carry. I think it is best to think of each case individually and know there is a range that includes the median.
One other point is that the if the median age is now 37, those people were born in the 70's without the benefit of todays medicine. I would think those born in the 80's and 90's would be expected to do even better and so on.
Best of luck to you and your daughter.
Steve
Hello Steve,
Could you tell me if the mutation A107V is included in the full Ambry test ? Thank you
PS: My husband has cf and we are going to start Ivf. I have a negative full ambry test from July 08. I also had previously taken a test of 160 mutations on the area where I live which I was negative for. They have offered me the possibility of testing me for this new mutation they have found in some cf patients from where I live, and that was not included in the pannel before. I would like to know if I was already tested for that, so I won´t have to wait for this test to start Ivf.
Thank you
Could you tell me if the mutation A107V is included in the full Ambry test ? Thank you
PS: My husband has cf and we are going to start Ivf. I have a negative full ambry test from July 08. I also had previously taken a test of 160 mutations on the area where I live which I was negative for. They have offered me the possibility of testing me for this new mutation they have found in some cf patients from where I live, and that was not included in the pannel before. I would like to know if I was already tested for that, so I won´t have to wait for this test to start Ivf.
Thank you
StevenKeiles
New member
Are you sure that it is A107V and not some other mutation like A1067V? The reason I ask is because we have never seen or heard of the mutation A107V, which means that if it exists it would be extremely rare.
Regardless, the Ambry Test analyzes the entire CF sequence so we can detect all mutations even ones that have never been seen before. Therefore you would not need additional testing.
Best of luck,
Steve
Regardless, the Ambry Test analyzes the entire CF sequence so we can detect all mutations even ones that have never been seen before. Therefore you would not need additional testing.
Best of luck,
Steve
L
Lety
Guest
My daughter has two copies of Delta F508 and I want to be tested for CF as well. I'm 42 and some health problems that make me wonder if I'm not just a carrier. Knowing my daughter's mutation. How much would it cost to be tested. My insurance doesn't cover Ambry.
Thanks so much for all the information.
Thanks so much for all the information.
Steve, my son is 14. He has seen 4 CF docs, 2 say he could have CF and 2 say no. His uncle (fathers brother) has mild CF. I would like to at least find out if my son is a carrier but insurance won't approve any genetic testing because he passed 2 sweat tests with a 19 and 28. Any recommendations on what I can do to get the testing done for him. I cannot afford to pay for it out of pocket.
Thanks so much
Kim
Thanks so much
Kim
I have 2 questions about the 5T variant. 1. We know that my daughter has the 12TG repeats and it was passed to her by my husband. His TG repeats were not looked for. Can we assume he has 12TG repeats as well? 2. If we have any more children in the future and they carry the 5T alone with no other mutation (there are no other mutations between me and my husband), will the baby have a high IRT in the newborn screening which would put us in the process of CF testing again? Thanks!
StevenKeiles
New member
CJsmom,
The best thing I could suggest would be to discuss with the two doctors who said he might have CF and have them write a letter to try an get the insurance to authorize it. I do not think a sweat of 28 is exactly passing with flying colors and that this would warrant further study to help determine if he really does have a form of CF.
Best of luck,
Steve
DaisyMae,
If you do not carry the 12TG and your daughter does then it has to come from your husband. If neither of you have any other mutations and a baby just had the 5T it may or may not cause an elevation in the IRT for newborn screening. Some babies can have a higher level and not even carry 1 CF mutation. Of course being a carrier of a CF mutation does make it more likely the IRT will be elevated. Remember this is newborn screening and not newborn diagnosis. High levels of IRT are not abnormal, they are just indicative of a higher chance to have CF, that is why the follow up testing in necessary. If there is no CF then there is no significance of having high IRT.
Steve
The best thing I could suggest would be to discuss with the two doctors who said he might have CF and have them write a letter to try an get the insurance to authorize it. I do not think a sweat of 28 is exactly passing with flying colors and that this would warrant further study to help determine if he really does have a form of CF.
Best of luck,
Steve
DaisyMae,
If you do not carry the 12TG and your daughter does then it has to come from your husband. If neither of you have any other mutations and a baby just had the 5T it may or may not cause an elevation in the IRT for newborn screening. Some babies can have a higher level and not even carry 1 CF mutation. Of course being a carrier of a CF mutation does make it more likely the IRT will be elevated. Remember this is newborn screening and not newborn diagnosis. High levels of IRT are not abnormal, they are just indicative of a higher chance to have CF, that is why the follow up testing in necessary. If there is no CF then there is no significance of having high IRT.
Steve
My son's mutations have not been identified. But if it looks like a duck, walks like a duck, and quacks like a duck........its CF....I mean a duck.
He was finally diagnosed at age 12 after nasal polyps were found during sinus surgery and he has a postivie nasal potential test.
He was finally diagnosed at age 12 after nasal polyps were found during sinus surgery and he has a postivie nasal potential test.
StevenKeiles
New member
Dolline,
What genetic testing has your son had, maybe there is more testing that would be more comprehensive.
Steve
What genetic testing has your son had, maybe there is more testing that would be more comprehensive.
Steve