Are there still unknown mutations?

[Jana]

I saw some talk about this in another thread and am curious. Testing was done for me in college (quite a while ago!), and it revealed I have a DF508 and an unknown mutation.

Speculation is it's because of the unknown mutation that my downward progress has been much slower than the average. However, as someone correctly pointed out, there's no escaping the progress whatever the case.

I'm just curious if there are still some unknown mutations or if my testing is now somewhat outdated.

 

[Jana]

I saw some talk about this in another thread and am curious. Testing was done for me in college (quite a while ago!), and it revealed I have a DF508 and an unknown mutation.

Speculation is it's because of the unknown mutation that my downward progress has been much slower than the average. However, as someone correctly pointed out, there's no escaping the progress whatever the case.

I'm just curious if there are still some unknown mutations or if my testing is now somewhat outdated.

 

[Jana]

I saw some talk about this in another thread and am curious. Testing was done for me in college (quite a while ago!), and it revealed I have a DF508 and an unknown mutation.

Speculation is it's because of the unknown mutation that my downward progress has been much slower than the average. However, as someone correctly pointed out, there's no escaping the progress whatever the case.

I'm just curious if there are still some unknown mutations or if my testing is now somewhat outdated.

 

[Jana]

I saw some talk about this in another thread and am curious. Testing was done for me in college (quite a while ago!), and it revealed I have a DF508 and an unknown mutation.

Speculation is it's because of the unknown mutation that my downward progress has been much slower than the average. However, as someone correctly pointed out, there's no escaping the progress whatever the case.

I'm just curious if there are still some unknown mutations or if my testing is now somewhat outdated.

 

[Jana]

I saw some talk about this in another thread and am curious. Testing was done for me in college (quite a while ago!), and it revealed I have a DF508 and an unknown mutation.
<br />
<br />Speculation is it's because of the unknown mutation that my downward progress has been much slower than the average. However, as someone correctly pointed out, there's no escaping the progress whatever the case.
<br />
<br />I'm just curious if there are still some unknown mutations or if my testing is now somewhat outdated.

 

[JazzysMom]

I know you didnt mean for this to me funny, but the ?? struck me as such.

If there are unknown....how would we know if they are unknown!

OK I just had to giggle!

IMHO there is no ?? there are lots more undiscovered genes. It would explain a lot for those that have 1 verified gene & symptoms, but no confirmed 2nd one.

I also think it would explain those that have all the typical CF symptoms (including the bacterias) with NO found mutations.

Years from now IMHO I think the statistics of a carrier will show an even greater chance because of all the new ones they will uncover!


BTW depending on how long ago you had genetic testing would indicate whether its worth you doing it again.

 

[JazzysMom]

I know you didnt mean for this to me funny, but the ?? struck me as such.

If there are unknown....how would we know if they are unknown!

OK I just had to giggle!

IMHO there is no ?? there are lots more undiscovered genes. It would explain a lot for those that have 1 verified gene & symptoms, but no confirmed 2nd one.

I also think it would explain those that have all the typical CF symptoms (including the bacterias) with NO found mutations.

Years from now IMHO I think the statistics of a carrier will show an even greater chance because of all the new ones they will uncover!


BTW depending on how long ago you had genetic testing would indicate whether its worth you doing it again.

 

[JazzysMom]

I know you didnt mean for this to me funny, but the ?? struck me as such.

If there are unknown....how would we know if they are unknown!

OK I just had to giggle!

IMHO there is no ?? there are lots more undiscovered genes. It would explain a lot for those that have 1 verified gene & symptoms, but no confirmed 2nd one.

I also think it would explain those that have all the typical CF symptoms (including the bacterias) with NO found mutations.

Years from now IMHO I think the statistics of a carrier will show an even greater chance because of all the new ones they will uncover!


BTW depending on how long ago you had genetic testing would indicate whether its worth you doing it again.

 

[JazzysMom]

I know you didnt mean for this to me funny, but the ?? struck me as such.

If there are unknown....how would we know if they are unknown!

OK I just had to giggle!

IMHO there is no ?? there are lots more undiscovered genes. It would explain a lot for those that have 1 verified gene & symptoms, but no confirmed 2nd one.

I also think it would explain those that have all the typical CF symptoms (including the bacterias) with NO found mutations.

Years from now IMHO I think the statistics of a carrier will show an even greater chance because of all the new ones they will uncover!


BTW depending on how long ago you had genetic testing would indicate whether its worth you doing it again.

 

[JazzysMom]

I know you didnt mean for this to me funny, but the ?? struck me as such.
<br />
<br />If there are unknown....how would we know if they are unknown!
<br />
<br />OK I just had to giggle!
<br />
<br />IMHO there is no ?? there are lots more undiscovered genes. It would explain a lot for those that have 1 verified gene & symptoms, but no confirmed 2nd one.
<br />
<br />I also think it would explain those that have all the typical CF symptoms (including the bacterias) with NO found mutations.
<br />
<br />Years from now IMHO I think the statistics of a carrier will show an even greater chance because of all the new ones they will uncover!
<br />
<br />
<br />BTW depending on how long ago you had genetic testing would indicate whether its worth you doing it again.
<br />

 

[Jana]

Okay, now you have me laughing! I didn't think about the wording of that question very carefully, did I? Oh well, we all could use a good laugh today!

The difference for me was that I was diagnosed with CF around 7 months old, and the genetic testing didn't come until years later. That test must have been close to 20 years ago now.

 

[Jana]

Okay, now you have me laughing! I didn't think about the wording of that question very carefully, did I? Oh well, we all could use a good laugh today!

The difference for me was that I was diagnosed with CF around 7 months old, and the genetic testing didn't come until years later. That test must have been close to 20 years ago now.

 

[Jana]

Okay, now you have me laughing! I didn't think about the wording of that question very carefully, did I? Oh well, we all could use a good laugh today!

The difference for me was that I was diagnosed with CF around 7 months old, and the genetic testing didn't come until years later. That test must have been close to 20 years ago now.

 

[Jana]

Okay, now you have me laughing! I didn't think about the wording of that question very carefully, did I? Oh well, we all could use a good laugh today!

The difference for me was that I was diagnosed with CF around 7 months old, and the genetic testing didn't come until years later. That test must have been close to 20 years ago now.

 

[Jana]

Okay, now you have me laughing! I didn't think about the wording of that question very carefully, did I? Oh well, we all could use a good laugh today!
<br />
<br />The difference for me was that I was diagnosed with CF around 7 months old, and the genetic testing didn't come until years later. That test must have been close to 20 years ago now.

 

[just1more]

If your genetic test was 10+ years ago, it most likely didn't include most if any of the 1500 'known' mutations.

If you want to know (could come in handy with some of the treatments being developed for nonsense mutations), I'd try and figure out how to get the Ambry panel run and see what it shows. My only concern being I doubt insurance is going to pay for it since you have the dx and have been treated for 35+ years.

 

[just1more]

If your genetic test was 10+ years ago, it most likely didn't include most if any of the 1500 'known' mutations.

If you want to know (could come in handy with some of the treatments being developed for nonsense mutations), I'd try and figure out how to get the Ambry panel run and see what it shows. My only concern being I doubt insurance is going to pay for it since you have the dx and have been treated for 35+ years.

 

[just1more]

If your genetic test was 10+ years ago, it most likely didn't include most if any of the 1500 'known' mutations.

If you want to know (could come in handy with some of the treatments being developed for nonsense mutations), I'd try and figure out how to get the Ambry panel run and see what it shows. My only concern being I doubt insurance is going to pay for it since you have the dx and have been treated for 35+ years.

 

[just1more]

If your genetic test was 10+ years ago, it most likely didn't include most if any of the 1500 'known' mutations.

If you want to know (could come in handy with some of the treatments being developed for nonsense mutations), I'd try and figure out how to get the Ambry panel run and see what it shows. My only concern being I doubt insurance is going to pay for it since you have the dx and have been treated for 35+ years.

 

[just1more]

If your genetic test was 10+ years ago, it most likely didn't include most if any of the 1500 'known' mutations.
<br />
<br />If you want to know (could come in handy with some of the treatments being developed for nonsense mutations), I'd try and figure out how to get the Ambry panel run and see what it shows. My only concern being I doubt insurance is going to pay for it since you have the dx and have been treated for 35+ years.