JennifersHope
New member
Hey Steve.. I hope your son is doing well, I foget how old Jennifer
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Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
Hi Steve,
I am interested to find out about my mutations DF508 and P67L. My knowledge on the two Genes is a bit hazy.
Where is P67L rated I know it is a mild gene and DF508 is the Recessive Gene. I do have mild/moderate CF but ,I would need IV's four to five times a year. Last year I worked very hard exercising and compliant with my meds needed Iv's twice.
From the age of six I was diganosed with Asthma. However, it wasn't until I was 33yrs- old when I found out I had CF.
I live in Ireland so they only test for 200 genes.
I had a result in six weeks identifiying DF508 and the second Gene unidentified and in the mean time I went for a seconde opinion to Boston and had the Ambry testing done and the result was back to me in three weeks.
The Genetic testing Unit in Ireland sent it on to France-Genetic Unit and two years later the second result was disccovered.....laughable 2years.
Any information I would be grateful.
Thanks for your help.
sunflower-----37yrs old
Asthma, ABPA, Bronchi
Cepacia (not cultured in a year)
I am interested to find out about my mutations DF508 and P67L. My knowledge on the two Genes is a bit hazy.
Where is P67L rated I know it is a mild gene and DF508 is the Recessive Gene. I do have mild/moderate CF but ,I would need IV's four to five times a year. Last year I worked very hard exercising and compliant with my meds needed Iv's twice.
From the age of six I was diganosed with Asthma. However, it wasn't until I was 33yrs- old when I found out I had CF.
I live in Ireland so they only test for 200 genes.
I had a result in six weeks identifiying DF508 and the second Gene unidentified and in the mean time I went for a seconde opinion to Boston and had the Ambry testing done and the result was back to me in three weeks.
The Genetic testing Unit in Ireland sent it on to France-Genetic Unit and two years later the second result was disccovered.....laughable 2years.
Any information I would be grateful.
Thanks for your help.
sunflower-----37yrs old
Asthma, ABPA, Bronchi
Cepacia (not cultured in a year)
StevenKeiles
New member
Thanks Jennifer, actually my latest child is a girl and she is 9.5 months and doing very well. We had some nice bonding time at 6 am, I prefer bonding more like 7am but I guess it could be worse.
The R117H/5T can be very mild in some people and more moderate in others but not likely to be severe in anyone. Since nothing is exact there will always be some variability in all patients even when they have the same mutations.
Steve
The R117H/5T can be very mild in some people and more moderate in others but not likely to be severe in anyone. Since nothing is exact there will always be some variability in all patients even when they have the same mutations.
Steve
StevenKeiles
New member
Sunflower,
I am glad you had a good experience with Ambry Genetics, I like to hear that. Regarding the P67L mutation, we have seen this many times and it looks like most patients are pancreatic sufficient, borderline to positive sweats and growing various infections along with asthma and bronchiectasis.
Best of luck and Happy St. Patricks Day.
Steve
I am glad you had a good experience with Ambry Genetics, I like to hear that. Regarding the P67L mutation, we have seen this many times and it looks like most patients are pancreatic sufficient, borderline to positive sweats and growing various infections along with asthma and bronchiectasis.
Best of luck and Happy St. Patricks Day.
Steve
janddburke
New member
my daughter has mutations W1282X and R117H.
I've been reading past posts with regard to R117H.
what is meant by 'atypical' CF?
how is it different from 'typical' CF?
any and all information is gratefully appreciated.
I've been reading past posts with regard to R117H.
what is meant by 'atypical' CF?
how is it different from 'typical' CF?
any and all information is gratefully appreciated.
Dear Steve ,
Our 15 year old son has been ill for the last 2 yrs.He is currently undergoing a ct scan again on tomorrow on his lungs to check for carcinoid.In his testing for CF he tested positive for L320V
mutation. The sample was tested a second time and we were told that he was a carrier,but did not have another mutation.I believe the test was done by your company.Is it possible he is experiencing some symptoms as a carrier?Secondly,is it possible that there may be another mutation that was not picked up on the second round of testing?How extensive is the testing Ambry does? Can you help to clarify anything about this mutation? I was told that he should have a stool sample checked and also an ultra sound to check for sterility.Can you give any insight please? Thank you!
Our 15 year old son has been ill for the last 2 yrs.He is currently undergoing a ct scan again on tomorrow on his lungs to check for carcinoid.In his testing for CF he tested positive for L320V
mutation. The sample was tested a second time and we were told that he was a carrier,but did not have another mutation.I believe the test was done by your company.Is it possible he is experiencing some symptoms as a carrier?Secondly,is it possible that there may be another mutation that was not picked up on the second round of testing?How extensive is the testing Ambry does? Can you help to clarify anything about this mutation? I was told that he should have a stool sample checked and also an ultra sound to check for sterility.Can you give any insight please? Thank you!
StevenKeiles
New member
janddburke,
Typical CF usually involves pancreatic insufficiency, and moderate to severe lung involvement. Atypical patients are usually pancreatic sufficient and have less lung severe lung involvement.
However, there is always variability with all mutations and will all patients.
Vermonter,
There is no test that is 100%, so it is always possible that there is another mutation, it is also possible that there are other things going on in addition to the one CF mutation. The genetics are just one part of the puzzle and that is why the doctors need to look at many different tests to make the best assessment. With CF there is no one test that tell you everything.
Best of luck,
Steve
Typical CF usually involves pancreatic insufficiency, and moderate to severe lung involvement. Atypical patients are usually pancreatic sufficient and have less lung severe lung involvement.
However, there is always variability with all mutations and will all patients.
Vermonter,
There is no test that is 100%, so it is always possible that there is another mutation, it is also possible that there are other things going on in addition to the one CF mutation. The genetics are just one part of the puzzle and that is why the doctors need to look at many different tests to make the best assessment. With CF there is no one test that tell you everything.
Best of luck,
Steve
Hi,
Testing for infertility my husband had the Genzyme test done and it came back positive for two mutations: R117H and G551D. I have two questions:
1) Does two mutations mean he has CF or is he just a carrier? No one has been able to explain this to us.
2) I tested negative for 97 mutations; what are the chances I might have a mutation that was not found and that we might have a CF baby?
Thank you in advance.
Testing for infertility my husband had the Genzyme test done and it came back positive for two mutations: R117H and G551D. I have two questions:
1) Does two mutations mean he has CF or is he just a carrier? No one has been able to explain this to us.
2) I tested negative for 97 mutations; what are the chances I might have a mutation that was not found and that we might have a CF baby?
Thank you in advance.
StevenKeiles
New member
ap2008,
Those two mutations would mean that he has a form of CF, however, some people might have male infertility as the only symptom. Other symptoms could still develop over time.
you have approximately a 1 in 250 chance of still carrying a mutation. If you were to take our test, the Ambry Test: CF Amplified, the chance you would still carry a mutation is 1 in 2400, which would give you about a 1 in 5000 chance to have a child with a form of CF.
Amy,
Deletions are a certain type of mutation where a part of the gene is missing. Our deletion test checks for very large deletions and duplications. These are generally severe mutations and account for 1-2% of CF mutations. This makes is one of the most common mutation types since only a few mutation occur more frequently.
Steve
Those two mutations would mean that he has a form of CF, however, some people might have male infertility as the only symptom. Other symptoms could still develop over time.
you have approximately a 1 in 250 chance of still carrying a mutation. If you were to take our test, the Ambry Test: CF Amplified, the chance you would still carry a mutation is 1 in 2400, which would give you about a 1 in 5000 chance to have a child with a form of CF.
Amy,
Deletions are a certain type of mutation where a part of the gene is missing. Our deletion test checks for very large deletions and duplications. These are generally severe mutations and account for 1-2% of CF mutations. This makes is one of the most common mutation types since only a few mutation occur more frequently.
Steve
MeganMartinez
New member
Hi Steve,
I have an 8 month old Gracie, who was diagnosed in NJ with the newborn screening. We knew it ran in my husband's family not ours. My other 2 kids and I were tested at Children's Hospital of Philadelphia. My daughter was positive sweat test at the age of 9 yrs old, my son was negative and I was boderline at 54-55 sweat test. My two daugters have DF508 and R117h w/5T. My oldest has more milder asthma, allergies, bronchitis and is pancreatic suffient. My youngest has been hospitalized a few times already and is pancreatic insuffient. I know that cf can be a varying disease, but with both of them having the same genes(same father) how can they be so different? Is there a book or articles that talk more about the different mutations and the varying degrees of problems that sometimes occur?
I did go to Penn Lung Center because my daugter's doctor at CHOP strongly encouraged me to go. I do have symptoms of cf but I am a relativly healthy person at the age of 32. They want me to get life insurance before I get a full blood panel. They do want me to get my Dad's blood screened to see if he has a rare mutation, as we know my Mom has the r117h gene. If they don't find any mutation from my Dad should I just assume that I definitly don't have cf? Thanks for your time. It is beyond kind of you to take the time to answer all these questions.
Thanks,
Megan- Mom of
Caity- 10ys old with cf
Mike- 8yrs old without cf
Gracie- 8 months with cf DF508 & R117H 5T
I have an 8 month old Gracie, who was diagnosed in NJ with the newborn screening. We knew it ran in my husband's family not ours. My other 2 kids and I were tested at Children's Hospital of Philadelphia. My daughter was positive sweat test at the age of 9 yrs old, my son was negative and I was boderline at 54-55 sweat test. My two daugters have DF508 and R117h w/5T. My oldest has more milder asthma, allergies, bronchitis and is pancreatic suffient. My youngest has been hospitalized a few times already and is pancreatic insuffient. I know that cf can be a varying disease, but with both of them having the same genes(same father) how can they be so different? Is there a book or articles that talk more about the different mutations and the varying degrees of problems that sometimes occur?
I did go to Penn Lung Center because my daugter's doctor at CHOP strongly encouraged me to go. I do have symptoms of cf but I am a relativly healthy person at the age of 32. They want me to get life insurance before I get a full blood panel. They do want me to get my Dad's blood screened to see if he has a rare mutation, as we know my Mom has the r117h gene. If they don't find any mutation from my Dad should I just assume that I definitly don't have cf? Thanks for your time. It is beyond kind of you to take the time to answer all these questions.
Thanks,
Megan- Mom of
Caity- 10ys old with cf
Mike- 8yrs old without cf
Gracie- 8 months with cf DF508 & R117H 5T
StevenKeiles
New member
Megan,
All mutations can have great variability and it is not that unusal for two siblings with the same mutations to have a very different presentation. There is a lot of work being done in this are but there is still a long way to go.
Testing you would be the best way to go, but if your dad does not carry anything then it is not likely you would have another CF mutation.
Steve
All mutations can have great variability and it is not that unusal for two siblings with the same mutations to have a very different presentation. There is a lot of work being done in this are but there is still a long way to go.
Testing you would be the best way to go, but if your dad does not carry anything then it is not likely you would have another CF mutation.
Steve
I had a positive sweat test (66) and the R553X was identified in 2004 right after my daughter was diagnosed. Since then my symptoms have greatly increased respiratory wise and they have diagnosed me with CF. When they did my genetic testing the "CFTR: Full Gene Sequence Analysis" was done. How many mutations did they test for? What are the chances of my other gene being discovered if I have another genetics screening done?
StevenKeiles
New member
Kathie,
Testing has improved since 2004, including the fact that we can now test for deletion and duplications which were not available back then. I would recommend retesting with our CF Amplified test which is the most comprehensive test available, if there is a concern which it sounds like there would be.
good luck,
Steve
Testing has improved since 2004, including the fact that we can now test for deletion and duplications which were not available back then. I would recommend retesting with our CF Amplified test which is the most comprehensive test available, if there is a concern which it sounds like there would be.
good luck,
Steve
Hi Steve,
I wanted to get your opinion about what I should do about my daughter's situation. She is 7 months old. At 5 months she had 2 sweat tests done because she had failure to thrive (only gained 4oz in one month). Her sweat tests were 34 & 30. She also had an upper GI done and it was determined she has severe reflux which is what was causing Failure to Thrive. She has had a stool test done and didn't have any fat absorption issues. Based on the high normal sweat test scores, I requested further CF testing from her Pediatric GI Dr. My daughter had the CF blood screening done (I think 23 mutations) and it came back negative....no mutations found. I also had the screening done when I was pregnant and was not a carrier of those mutations. So, here's my question, what do I do next??? Her pediatrician & pediatric GI doctor keep reassuring me that it's highly unlikely she has CF but what I read on this boards makes me wonder otherwise. Do I try to push for a full genetic screen or trust that the doctors know what they are doing? Thanks for any guidance you can provide!!!
Daisymae
I wanted to get your opinion about what I should do about my daughter's situation. She is 7 months old. At 5 months she had 2 sweat tests done because she had failure to thrive (only gained 4oz in one month). Her sweat tests were 34 & 30. She also had an upper GI done and it was determined she has severe reflux which is what was causing Failure to Thrive. She has had a stool test done and didn't have any fat absorption issues. Based on the high normal sweat test scores, I requested further CF testing from her Pediatric GI Dr. My daughter had the CF blood screening done (I think 23 mutations) and it came back negative....no mutations found. I also had the screening done when I was pregnant and was not a carrier of those mutations. So, here's my question, what do I do next??? Her pediatrician & pediatric GI doctor keep reassuring me that it's highly unlikely she has CF but what I read on this boards makes me wonder otherwise. Do I try to push for a full genetic screen or trust that the doctors know what they are doing? Thanks for any guidance you can provide!!!
Daisymae
StevenKeiles
New member
Daisymae,
It is difficult for me to assess the liklihood of CF without knowing the entire history and all the tests that have been run. However, just based on a sweat test in the 30's, being negative on a mutation panel does not give me any reassurance about CF. There are so many atypical forms of CF with mutations that are not on the panel. Based on this, my recommendation is always to do a complete sequence analysis any time there is a suspicion of CF. I hope that helps.
Steve
It is difficult for me to assess the liklihood of CF without knowing the entire history and all the tests that have been run. However, just based on a sweat test in the 30's, being negative on a mutation panel does not give me any reassurance about CF. There are so many atypical forms of CF with mutations that are not on the panel. Based on this, my recommendation is always to do a complete sequence analysis any time there is a suspicion of CF. I hope that helps.
Steve
Thanks Steven. I appreciate your opinion. I have an appt set up with my daughter's regular pediatrician next week to discuss her eczema and am going to ask to have the CF full genetic testing done. Since my pediatrician does not think she has cystic fibrosis, how would you suggest convincing her that she needs to be tested and what specific test should we request? Also, you mentioned that atypical forms are not on the panel. If she were to have atypical CF, what can you tell me about the severity and life expectancy of it. This is all very new and very scary to me!
Daisymae
Daisymae
SandyCheeks
New member
Steve,
I am trying to have my daughter tested genetically. They have already done the genzyme panel in which they found no mutations. My pediatrician would like to order the test but is unsure how to order it. Can you tell me specifically what they need to write on the order so that it is done correctly?
Thanks,
Sandy
I am trying to have my daughter tested genetically. They have already done the genzyme panel in which they found no mutations. My pediatrician would like to order the test but is unsure how to order it. Can you tell me specifically what they need to write on the order so that it is done correctly?
Thanks,
Sandy
StevenKeiles
New member
Daisymae and Sandy,
There are different ways that tests can be ordered by your pediatrician. It would be best for each of you to contact me directly so I can figure out the best way for each of you. My contact information is below.
Steve
There are different ways that tests can be ordered by your pediatrician. It would be best for each of you to contact me directly so I can figure out the best way for each of you. My contact information is below.
Steve
posted this reply tonight to a similar question on the family forum on normal sweat tests but would also like to get an opinion from Stephen on this if possible
Thanks,
Steve
___________________
Our son is almost four and has had a lot of CF symptoms since birth
- since birth, consistent vomiting mucus until he was about two
- multiple bouts of pneumonia (hospitalized once)
-cannot stave of a 'normal' cold without weeks (4+) of coughing followed by antibiotics
-refusal of bottle - failure to thrive until 2 years old when he was placed on reflux meds
-smelly foul-smelling stools (we have two older girls, there is no comparison)
He's currently on daily steroids along with reflux meds - every time he has another lung issue and is up coughing all night for weeks, we question CF again. When our son was one and 18 months, he had sweat tests done which both came back at 30. At the last appointment with the specialist (after another infection and weeks more of coughing) we pushed for genetic testing. He doesn't think it it necessary (suspects Asthma) based on the sweat test results. Is there any study out there that can give us some idea of how many others have normal sweat tests (<40) only to discover the mutation later in life?
really feeling in limbo right now....just want to rule out CF but with every bout it keeps lurking in our minds. Any advice?
in limbo in London (ON)
Thanks,
Steve
___________________
Our son is almost four and has had a lot of CF symptoms since birth
- since birth, consistent vomiting mucus until he was about two
- multiple bouts of pneumonia (hospitalized once)
-cannot stave of a 'normal' cold without weeks (4+) of coughing followed by antibiotics
-refusal of bottle - failure to thrive until 2 years old when he was placed on reflux meds
-smelly foul-smelling stools (we have two older girls, there is no comparison)
He's currently on daily steroids along with reflux meds - every time he has another lung issue and is up coughing all night for weeks, we question CF again. When our son was one and 18 months, he had sweat tests done which both came back at 30. At the last appointment with the specialist (after another infection and weeks more of coughing) we pushed for genetic testing. He doesn't think it it necessary (suspects Asthma) based on the sweat test results. Is there any study out there that can give us some idea of how many others have normal sweat tests (<40) only to discover the mutation later in life?
really feeling in limbo right now....just want to rule out CF but with every bout it keeps lurking in our minds. Any advice?
in limbo in London (ON)