2 CF mutations do not always mean a person has cystic fibrosis. To have cystic fibrosis u have to have 2 mutations and they have to be on different strands. There have been cases where a person has 2 mutations but they were on the same thread, so they did not have CF. So clarify this with whoever did your genetic testing and u will have your answer. If they are on opposite strands,then it sounds like u will be getting the proper care if u r going to be going to Hopkins. Best of luck.
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Very confused
- Thread starter amyr
- Start date
2 CF mutations do not always mean a person has cystic fibrosis. To have cystic fibrosis u have to have 2 mutations and they have to be on different strands. There have been cases where a person has 2 mutations but they were on the same thread, so they did not have CF. So clarify this with whoever did your genetic testing and u will have your answer. If they are on opposite strands,then it sounds like u will be getting the proper care if u r going to be going to Hopkins. Best of luck.
2 CF mutations do not always mean a person has cystic fibrosis. To have cystic fibrosis u have to have 2 mutations and they have to be on different strands. There have been cases where a person has 2 mutations but they were on the same thread, so they did not have CF. So clarify this with whoever did your genetic testing and u will have your answer. If they are on opposite strands,then it sounds like u will be getting the proper care if u r going to be going to Hopkins. Best of luck.
2 CF mutations do not always mean a person has cystic fibrosis. To have cystic fibrosis u have to have 2 mutations and they have to be on different strands. There have been cases where a person has 2 mutations but they were on the same thread, so they did not have CF. So clarify this with whoever did your genetic testing and u will have your answer. If they are on opposite strands,then it sounds like u will be getting the proper care if u r going to be going to Hopkins. Best of luck.
2 CF mutations do not always mean a person has cystic fibrosis. To have cystic fibrosis u have to have 2 mutations and they have to be on different strands. There have been cases where a person has 2 mutations but they were on the same thread, so they did not have CF. So clarify this with whoever did your genetic testing and u will have your answer. If they are on opposite strands,then it sounds like u will be getting the proper care if u r going to be going to Hopkins. Best of luck.
T
Terry
Guest
Are you in Maryland? Marissa sees Dr. Mogayzel at Hopkins, he is a wonderful doctor! She was in terrible health when she first went to him, he turned her right around.
Good Luck!
Terry
Good Luck!
Terry
T
Terry
Guest
Are you in Maryland? Marissa sees Dr. Mogayzel at Hopkins, he is a wonderful doctor! She was in terrible health when she first went to him, he turned her right around.
Good Luck!
Terry
Good Luck!
Terry
T
Terry
Guest
Are you in Maryland? Marissa sees Dr. Mogayzel at Hopkins, he is a wonderful doctor! She was in terrible health when she first went to him, he turned her right around.
Good Luck!
Terry
Good Luck!
Terry
T
Terry
Guest
Are you in Maryland? Marissa sees Dr. Mogayzel at Hopkins, he is a wonderful doctor! She was in terrible health when she first went to him, he turned her right around.
Good Luck!
Terry
Good Luck!
Terry
T
Terry
Guest
Are you in Maryland? Marissa sees Dr. Mogayzel at Hopkins, he is a wonderful doctor! She was in terrible health when she first went to him, he turned her right around.
<br />
<br />Good Luck!
<br />
<br />Terry
<br />
<br />Good Luck!
<br />
<br />Terry
Regarding 1540A>G this is also known as M470V and this is a very common variant that is carried by almost half the population, so it is not unusual for people to have two copies. these are not CF disease causing mutations.
Above is the portion of a reply by Steve from the Ambry thread that I was referring to. This certainly doesn't mean your son doens't have CF what I am saying is that these are not disease causing mutations.
Have you had full sequencing with deletion and duplication testing. There are perhaps one or more mutations being missed.
Above is the portion of a reply by Steve from the Ambry thread that I was referring to. This certainly doesn't mean your son doens't have CF what I am saying is that these are not disease causing mutations.
Have you had full sequencing with deletion and duplication testing. There are perhaps one or more mutations being missed.
Regarding 1540A>G this is also known as M470V and this is a very common variant that is carried by almost half the population, so it is not unusual for people to have two copies. these are not CF disease causing mutations.
Above is the portion of a reply by Steve from the Ambry thread that I was referring to. This certainly doesn't mean your son doens't have CF what I am saying is that these are not disease causing mutations.
Have you had full sequencing with deletion and duplication testing. There are perhaps one or more mutations being missed.
Above is the portion of a reply by Steve from the Ambry thread that I was referring to. This certainly doesn't mean your son doens't have CF what I am saying is that these are not disease causing mutations.
Have you had full sequencing with deletion and duplication testing. There are perhaps one or more mutations being missed.
Regarding 1540A>G this is also known as M470V and this is a very common variant that is carried by almost half the population, so it is not unusual for people to have two copies. these are not CF disease causing mutations.
Above is the portion of a reply by Steve from the Ambry thread that I was referring to. This certainly doesn't mean your son doens't have CF what I am saying is that these are not disease causing mutations.
Have you had full sequencing with deletion and duplication testing. There are perhaps one or more mutations being missed.
Above is the portion of a reply by Steve from the Ambry thread that I was referring to. This certainly doesn't mean your son doens't have CF what I am saying is that these are not disease causing mutations.
Have you had full sequencing with deletion and duplication testing. There are perhaps one or more mutations being missed.
Regarding 1540A>G this is also known as M470V and this is a very common variant that is carried by almost half the population, so it is not unusual for people to have two copies. these are not CF disease causing mutations.
Above is the portion of a reply by Steve from the Ambry thread that I was referring to. This certainly doesn't mean your son doens't have CF what I am saying is that these are not disease causing mutations.
Have you had full sequencing with deletion and duplication testing. There are perhaps one or more mutations being missed.
Above is the portion of a reply by Steve from the Ambry thread that I was referring to. This certainly doesn't mean your son doens't have CF what I am saying is that these are not disease causing mutations.
Have you had full sequencing with deletion and duplication testing. There are perhaps one or more mutations being missed.
Regarding 1540A>G this is also known as M470V and this is a very common variant that is carried by almost half the population, so it is not unusual for people to have two copies. these are not CF disease causing mutations.
<br />
<br />Above is the portion of a reply by Steve from the Ambry thread that I was referring to. This certainly doesn't mean your son doens't have CF what I am saying is that these are not disease causing mutations.
<br />
<br />Have you had full sequencing with deletion and duplication testing. There are perhaps one or more mutations being missed.
<br />
<br />Above is the portion of a reply by Steve from the Ambry thread that I was referring to. This certainly doesn't mean your son doens't have CF what I am saying is that these are not disease causing mutations.
<br />
<br />Have you had full sequencing with deletion and duplication testing. There are perhaps one or more mutations being missed.
I have two copies of the same mutation, not the one your son has though, my mutation is RH117 (7T). This came to light after my son was DXed with CF, he has a DF508 along with my mutation.
While I have thgese two mutations, I have not been dxed with cf, I have been seeing a CF clinic for the past 2 years I now see them every March....just as a precautionary measure I guess. Should say that I have no symptoms, my FEV is 107%, not bad for someone who smoked for 23 years...I am 41 this April and have fathered two kids naturally.
When they found this out I was told that as I dont have a trigger gene, then it would be highly unlikely that it will develop into CF. I also had a sweat test and my numbers were under 30, incidently my sons sweat test numbers were also under 30.
Do you know what class your son's cf mutation is in?
Craig
While I have thgese two mutations, I have not been dxed with cf, I have been seeing a CF clinic for the past 2 years I now see them every March....just as a precautionary measure I guess. Should say that I have no symptoms, my FEV is 107%, not bad for someone who smoked for 23 years...I am 41 this April and have fathered two kids naturally.
When they found this out I was told that as I dont have a trigger gene, then it would be highly unlikely that it will develop into CF. I also had a sweat test and my numbers were under 30, incidently my sons sweat test numbers were also under 30.
Do you know what class your son's cf mutation is in?
Craig
I have two copies of the same mutation, not the one your son has though, my mutation is RH117 (7T). This came to light after my son was DXed with CF, he has a DF508 along with my mutation.
While I have thgese two mutations, I have not been dxed with cf, I have been seeing a CF clinic for the past 2 years I now see them every March....just as a precautionary measure I guess. Should say that I have no symptoms, my FEV is 107%, not bad for someone who smoked for 23 years...I am 41 this April and have fathered two kids naturally.
When they found this out I was told that as I dont have a trigger gene, then it would be highly unlikely that it will develop into CF. I also had a sweat test and my numbers were under 30, incidently my sons sweat test numbers were also under 30.
Do you know what class your son's cf mutation is in?
Craig
While I have thgese two mutations, I have not been dxed with cf, I have been seeing a CF clinic for the past 2 years I now see them every March....just as a precautionary measure I guess. Should say that I have no symptoms, my FEV is 107%, not bad for someone who smoked for 23 years...I am 41 this April and have fathered two kids naturally.
When they found this out I was told that as I dont have a trigger gene, then it would be highly unlikely that it will develop into CF. I also had a sweat test and my numbers were under 30, incidently my sons sweat test numbers were also under 30.
Do you know what class your son's cf mutation is in?
Craig
I have two copies of the same mutation, not the one your son has though, my mutation is RH117 (7T). This came to light after my son was DXed with CF, he has a DF508 along with my mutation.
While I have thgese two mutations, I have not been dxed with cf, I have been seeing a CF clinic for the past 2 years I now see them every March....just as a precautionary measure I guess. Should say that I have no symptoms, my FEV is 107%, not bad for someone who smoked for 23 years...I am 41 this April and have fathered two kids naturally.
When they found this out I was told that as I dont have a trigger gene, then it would be highly unlikely that it will develop into CF. I also had a sweat test and my numbers were under 30, incidently my sons sweat test numbers were also under 30.
Do you know what class your son's cf mutation is in?
Craig
While I have thgese two mutations, I have not been dxed with cf, I have been seeing a CF clinic for the past 2 years I now see them every March....just as a precautionary measure I guess. Should say that I have no symptoms, my FEV is 107%, not bad for someone who smoked for 23 years...I am 41 this April and have fathered two kids naturally.
When they found this out I was told that as I dont have a trigger gene, then it would be highly unlikely that it will develop into CF. I also had a sweat test and my numbers were under 30, incidently my sons sweat test numbers were also under 30.
Do you know what class your son's cf mutation is in?
Craig
I have two copies of the same mutation, not the one your son has though, my mutation is RH117 (7T). This came to light after my son was DXed with CF, he has a DF508 along with my mutation.
While I have thgese two mutations, I have not been dxed with cf, I have been seeing a CF clinic for the past 2 years I now see them every March....just as a precautionary measure I guess. Should say that I have no symptoms, my FEV is 107%, not bad for someone who smoked for 23 years...I am 41 this April and have fathered two kids naturally.
When they found this out I was told that as I dont have a trigger gene, then it would be highly unlikely that it will develop into CF. I also had a sweat test and my numbers were under 30, incidently my sons sweat test numbers were also under 30.
Do you know what class your son's cf mutation is in?
Craig
While I have thgese two mutations, I have not been dxed with cf, I have been seeing a CF clinic for the past 2 years I now see them every March....just as a precautionary measure I guess. Should say that I have no symptoms, my FEV is 107%, not bad for someone who smoked for 23 years...I am 41 this April and have fathered two kids naturally.
When they found this out I was told that as I dont have a trigger gene, then it would be highly unlikely that it will develop into CF. I also had a sweat test and my numbers were under 30, incidently my sons sweat test numbers were also under 30.
Do you know what class your son's cf mutation is in?
Craig
I have two copies of the same mutation, not the one your son has though, my mutation is RH117 (7T). This came to light after my son was DXed with CF, he has a DF508 along with my mutation.
<br />While I have thgese two mutations, I have not been dxed with cf, I have been seeing a CF clinic for the past 2 years I now see them every March....just as a precautionary measure I guess. Should say that I have no symptoms, my FEV is 107%, not bad for someone who smoked for 23 years...I am 41 this April and have fathered two kids naturally.
<br />When they found this out I was told that as I dont have a trigger gene, then it would be highly unlikely that it will develop into CF. I also had a sweat test and my numbers were under 30, incidently my sons sweat test numbers were also under 30.
<br />Do you know what class your son's cf mutation is in?
<br />
<br />Craig
<br />While I have thgese two mutations, I have not been dxed with cf, I have been seeing a CF clinic for the past 2 years I now see them every March....just as a precautionary measure I guess. Should say that I have no symptoms, my FEV is 107%, not bad for someone who smoked for 23 years...I am 41 this April and have fathered two kids naturally.
<br />When they found this out I was told that as I dont have a trigger gene, then it would be highly unlikely that it will develop into CF. I also had a sweat test and my numbers were under 30, incidently my sons sweat test numbers were also under 30.
<br />Do you know what class your son's cf mutation is in?
<br />
<br />Craig