Genetic Testing

[HollyAnnsMom]

Hi everyone! Our little one was diagnosed through newborn screening and two positive sweat tests. The positive sweat tests were 67 and 65. Our CF staff never did any genetic testing. We do know that one of her gene mutations is DF508 but are unaware of the other mutation. I asked our pulmonologist if we needed to do the testing and she said that it really did not make much of a difference whether we knew or not. We go to clinic the end of the month and it is time for routine bloodwork so should I request genetic testing at this time to find out the other gene mutation that is present. Thanks for any advice that you may have.

 

[HollyAnnsMom]

Hi everyone! Our little one was diagnosed through newborn screening and two positive sweat tests. The positive sweat tests were 67 and 65. Our CF staff never did any genetic testing. We do know that one of her gene mutations is DF508 but are unaware of the other mutation. I asked our pulmonologist if we needed to do the testing and she said that it really did not make much of a difference whether we knew or not. We go to clinic the end of the month and it is time for routine bloodwork so should I request genetic testing at this time to find out the other gene mutation that is present. Thanks for any advice that you may have.

 

[HollyAnnsMom]

Hi everyone! Our little one was diagnosed through newborn screening and two positive sweat tests. The positive sweat tests were 67 and 65. Our CF staff never did any genetic testing. We do know that one of her gene mutations is DF508 but are unaware of the other mutation. I asked our pulmonologist if we needed to do the testing and she said that it really did not make much of a difference whether we knew or not. We go to clinic the end of the month and it is time for routine bloodwork so should I request genetic testing at this time to find out the other gene mutation that is present. Thanks for any advice that you may have.

 

[HollyAnnsMom]

Hi everyone! Our little one was diagnosed through newborn screening and two positive sweat tests. The positive sweat tests were 67 and 65. Our CF staff never did any genetic testing. We do know that one of her gene mutations is DF508 but are unaware of the other mutation. I asked our pulmonologist if we needed to do the testing and she said that it really did not make much of a difference whether we knew or not. We go to clinic the end of the month and it is time for routine bloodwork so should I request genetic testing at this time to find out the other gene mutation that is present. Thanks for any advice that you may have.

 

[HollyAnnsMom]

Hi everyone! Our little one was diagnosed through newborn screening and two positive sweat tests. The positive sweat tests were 67 and 65. Our CF staff never did any genetic testing. We do know that one of her gene mutations is DF508 but are unaware of the other mutation. I asked our pulmonologist if we needed to do the testing and she said that it really did not make much of a difference whether we knew or not. We go to clinic the end of the month and it is time for routine bloodwork so should I request genetic testing at this time to find out the other gene mutation that is present. Thanks for any advice that you may have.

 

[dyza]

I always thought that if it was picked up in new born screening what they are actually getting in this screening is some sort of protiene or lack of protiene that shows up if the pancreas has not been working, that is that the pancreas is insufficient. It should have been a fromality for them to then check for mutations, well thats my thinking on it.
My son was also dx'ed at new born screening, and his sweat tests were of normal numbers (both in 30's), had they gone about it the same way that your doctors had then he would not have been diagnosed.
Here in the UK they run an extensive data base of CF care.

Craig

 

[dyza]

I always thought that if it was picked up in new born screening what they are actually getting in this screening is some sort of protiene or lack of protiene that shows up if the pancreas has not been working, that is that the pancreas is insufficient. It should have been a fromality for them to then check for mutations, well thats my thinking on it.
My son was also dx'ed at new born screening, and his sweat tests were of normal numbers (both in 30's), had they gone about it the same way that your doctors had then he would not have been diagnosed.
Here in the UK they run an extensive data base of CF care.

Craig

 

[dyza]

I always thought that if it was picked up in new born screening what they are actually getting in this screening is some sort of protiene or lack of protiene that shows up if the pancreas has not been working, that is that the pancreas is insufficient. It should have been a fromality for them to then check for mutations, well thats my thinking on it.
My son was also dx'ed at new born screening, and his sweat tests were of normal numbers (both in 30's), had they gone about it the same way that your doctors had then he would not have been diagnosed.
Here in the UK they run an extensive data base of CF care.

Craig

 

[dyza]

I always thought that if it was picked up in new born screening what they are actually getting in this screening is some sort of protiene or lack of protiene that shows up if the pancreas has not been working, that is that the pancreas is insufficient. It should have been a fromality for them to then check for mutations, well thats my thinking on it.
My son was also dx'ed at new born screening, and his sweat tests were of normal numbers (both in 30's), had they gone about it the same way that your doctors had then he would not have been diagnosed.
Here in the UK they run an extensive data base of CF care.

Craig

 

[dyza]

I always thought that if it was picked up in new born screening what they are actually getting in this screening is some sort of protiene or lack of protiene that shows up if the pancreas has not been working, that is that the pancreas is insufficient. It should have been a fromality for them to then check for mutations, well thats my thinking on it.
<br />My son was also dx'ed at new born screening, and his sweat tests were of normal numbers (both in 30's), had they gone about it the same way that your doctors had then he would not have been diagnosed.
<br />Here in the UK they run an extensive data base of CF care.
<br />
<br />Craig

 

[Mommafirst]

I think I'd want to know and I'd think the docs should want you to know. While it won't impace the way her CF manisfests itself, knowing could be helpful as some of the newest forms of treatments seem to be mutation based. Having the DF508 makes her a candidate for the vx-770 and if she has an x mutation she would be a candidate for ptc124.

 

[Mommafirst]

I think I'd want to know and I'd think the docs should want you to know. While it won't impace the way her CF manisfests itself, knowing could be helpful as some of the newest forms of treatments seem to be mutation based. Having the DF508 makes her a candidate for the vx-770 and if she has an x mutation she would be a candidate for ptc124.

 

[Mommafirst]

I think I'd want to know and I'd think the docs should want you to know. While it won't impace the way her CF manisfests itself, knowing could be helpful as some of the newest forms of treatments seem to be mutation based. Having the DF508 makes her a candidate for the vx-770 and if she has an x mutation she would be a candidate for ptc124.

 

[Mommafirst]

I think I'd want to know and I'd think the docs should want you to know. While it won't impace the way her CF manisfests itself, knowing could be helpful as some of the newest forms of treatments seem to be mutation based. Having the DF508 makes her a candidate for the vx-770 and if she has an x mutation she would be a candidate for ptc124.

 

[Mommafirst]

I think I'd want to know and I'd think the docs should want you to know. While it won't impace the way her CF manisfests itself, knowing could be helpful as some of the newest forms of treatments seem to be mutation based. Having the DF508 makes her a candidate for the vx-770 and if she has an x mutation she would be a candidate for ptc124.

 

[grassisgreener]

I would want to know eventually especially as treatments become more and more mutation specific. We didn't know our daughters 2nd mutation until 1.5 years after her dx. Before that it was called "unknown". I think if you really want to know now then tell your doctor.

 

[grassisgreener]

I would want to know eventually especially as treatments become more and more mutation specific. We didn't know our daughters 2nd mutation until 1.5 years after her dx. Before that it was called "unknown". I think if you really want to know now then tell your doctor.

 

[grassisgreener]

I would want to know eventually especially as treatments become more and more mutation specific. We didn't know our daughters 2nd mutation until 1.5 years after her dx. Before that it was called "unknown". I think if you really want to know now then tell your doctor.

 

[grassisgreener]

I would want to know eventually especially as treatments become more and more mutation specific. We didn't know our daughters 2nd mutation until 1.5 years after her dx. Before that it was called "unknown". I think if you really want to know now then tell your doctor.

 

[grassisgreener]

I would want to know eventually especially as treatments become more and more mutation specific. We didn't know our daughters 2nd mutation until 1.5 years after her dx. Before that it was called "unknown". I think if you really want to know now then tell your doctor.