Newborn Screening - Repost

[TampaDad]

Thanks all! I am going to push for full genetic testing. Any clue what that costs? As you can imagine, I want to know the results now, and not wait through weeks of sweat tests and insurance red tape to get the approval for the full panel. I want to get the clock ticking on the 2-4 weeks Ambry takes.

I have pretty bad OCD, so this worry is pretty paralyzing. I've always been a hypochondriac, and now I have something real to worry about.

I hate to sound like this, particularly when only one mutation has been identified, while many on this forum have actually been diagnosed with CF. I guess I'm looking for some peace of mind.

Can anyone ballpark the odds of our boy having CF if he's been identified with one Delta F508 mutation and nothing else (even though the newborn screening was for only 42 mutations) and my wife had a prenatal screening that was negative for 26 mutations? There is just so much conflicting information out there that my head is swimming.

Thanks

 

[TampaDad]

Thanks all! I am going to push for full genetic testing. Any clue what that costs? As you can imagine, I want to know the results now, and not wait through weeks of sweat tests and insurance red tape to get the approval for the full panel. I want to get the clock ticking on the 2-4 weeks Ambry takes.

I have pretty bad OCD, so this worry is pretty paralyzing. I've always been a hypochondriac, and now I have something real to worry about.

I hate to sound like this, particularly when only one mutation has been identified, while many on this forum have actually been diagnosed with CF. I guess I'm looking for some peace of mind.

Can anyone ballpark the odds of our boy having CF if he's been identified with one Delta F508 mutation and nothing else (even though the newborn screening was for only 42 mutations) and my wife had a prenatal screening that was negative for 26 mutations? There is just so much conflicting information out there that my head is swimming.

Thanks

 

[TampaDad]

Thanks all! I am going to push for full genetic testing. Any clue what that costs? As you can imagine, I want to know the results now, and not wait through weeks of sweat tests and insurance red tape to get the approval for the full panel. I want to get the clock ticking on the 2-4 weeks Ambry takes.

I have pretty bad OCD, so this worry is pretty paralyzing. I've always been a hypochondriac, and now I have something real to worry about.

I hate to sound like this, particularly when only one mutation has been identified, while many on this forum have actually been diagnosed with CF. I guess I'm looking for some peace of mind.

Can anyone ballpark the odds of our boy having CF if he's been identified with one Delta F508 mutation and nothing else (even though the newborn screening was for only 42 mutations) and my wife had a prenatal screening that was negative for 26 mutations? There is just so much conflicting information out there that my head is swimming.

Thanks

 

[TampaDad]

Thanks all! I am going to push for full genetic testing. Any clue what that costs? As you can imagine, I want to know the results now, and not wait through weeks of sweat tests and insurance red tape to get the approval for the full panel. I want to get the clock ticking on the 2-4 weeks Ambry takes.

I have pretty bad OCD, so this worry is pretty paralyzing. I've always been a hypochondriac, and now I have something real to worry about.

I hate to sound like this, particularly when only one mutation has been identified, while many on this forum have actually been diagnosed with CF. I guess I'm looking for some peace of mind.

Can anyone ballpark the odds of our boy having CF if he's been identified with one Delta F508 mutation and nothing else (even though the newborn screening was for only 42 mutations) and my wife had a prenatal screening that was negative for 26 mutations? There is just so much conflicting information out there that my head is swimming.

Thanks

 

[TampaDad]

Thanks all! I am going to push for full genetic testing. Any clue what that costs? As you can imagine, I want to know the results now, and not wait through weeks of sweat tests and insurance red tape to get the approval for the full panel. I want to get the clock ticking on the 2-4 weeks Ambry takes.
<br />
<br />I have pretty bad OCD, so this worry is pretty paralyzing. I've always been a hypochondriac, and now I have something real to worry about.
<br />
<br />I hate to sound like this, particularly when only one mutation has been identified, while many on this forum have actually been diagnosed with CF. I guess I'm looking for some peace of mind.
<br />
<br />Can anyone ballpark the odds of our boy having CF if he's been identified with one Delta F508 mutation and nothing else (even though the newborn screening was for only 42 mutations) and my wife had a prenatal screening that was negative for 26 mutations? There is just so much conflicting information out there that my head is swimming.
<br />
<br />Thanks

 

[Mommafirst]

I think the odds are against it, but the odds were against most of the kids with CF on this board having it.

It is definitely feasible that the df508 that you carry, tripped the IRT sensor in the Newborn Screen. In fact, I believe I read that nearly 9 out of 10 positive newborn screens wind up being false positives because of carrier status. So if you want to consider those odds, its a calming one.

Since you know he has one mutation, it seems silly to stop testing until you have searched every nook and cranny to make sure the second isn't there. you should be able to get insurance to cover the Ambry test. Out of pocket it is like $3000 or something. You might contact Steve in the Ambry thread (in the families section) he could get you more information.

 

[Mommafirst]

I think the odds are against it, but the odds were against most of the kids with CF on this board having it.

It is definitely feasible that the df508 that you carry, tripped the IRT sensor in the Newborn Screen. In fact, I believe I read that nearly 9 out of 10 positive newborn screens wind up being false positives because of carrier status. So if you want to consider those odds, its a calming one.

Since you know he has one mutation, it seems silly to stop testing until you have searched every nook and cranny to make sure the second isn't there. you should be able to get insurance to cover the Ambry test. Out of pocket it is like $3000 or something. You might contact Steve in the Ambry thread (in the families section) he could get you more information.

 

[Mommafirst]

I think the odds are against it, but the odds were against most of the kids with CF on this board having it.

It is definitely feasible that the df508 that you carry, tripped the IRT sensor in the Newborn Screen. In fact, I believe I read that nearly 9 out of 10 positive newborn screens wind up being false positives because of carrier status. So if you want to consider those odds, its a calming one.

Since you know he has one mutation, it seems silly to stop testing until you have searched every nook and cranny to make sure the second isn't there. you should be able to get insurance to cover the Ambry test. Out of pocket it is like $3000 or something. You might contact Steve in the Ambry thread (in the families section) he could get you more information.

 

[Mommafirst]

I think the odds are against it, but the odds were against most of the kids with CF on this board having it.

It is definitely feasible that the df508 that you carry, tripped the IRT sensor in the Newborn Screen. In fact, I believe I read that nearly 9 out of 10 positive newborn screens wind up being false positives because of carrier status. So if you want to consider those odds, its a calming one.

Since you know he has one mutation, it seems silly to stop testing until you have searched every nook and cranny to make sure the second isn't there. you should be able to get insurance to cover the Ambry test. Out of pocket it is like $3000 or something. You might contact Steve in the Ambry thread (in the families section) he could get you more information.

 

[Mommafirst]

I think the odds are against it, but the odds were against most of the kids with CF on this board having it.
<br />
<br />It is definitely feasible that the df508 that you carry, tripped the IRT sensor in the Newborn Screen. In fact, I believe I read that nearly 9 out of 10 positive newborn screens wind up being false positives because of carrier status. So if you want to consider those odds, its a calming one.
<br />
<br />Since you know he has one mutation, it seems silly to stop testing until you have searched every nook and cranny to make sure the second isn't there. you should be able to get insurance to cover the Ambry test. Out of pocket it is like $3000 or something. You might contact Steve in the Ambry thread (in the families section) he could get you more information.

 

[Ratatosk]

Hopefully you'll get some answers, too. When the possibility of CF was first mentioned to us, I worried, cried, couldn't think straight. There was no family history. Because his mutations are fairly common, we got the genetic blood test results back within a week, but then someone ordered a sweat test and it came back normal. So we kept thinking it was all a big mistake.

Hopefully you'll get some answers soon.

 

[Ratatosk]

Hopefully you'll get some answers, too. When the possibility of CF was first mentioned to us, I worried, cried, couldn't think straight. There was no family history. Because his mutations are fairly common, we got the genetic blood test results back within a week, but then someone ordered a sweat test and it came back normal. So we kept thinking it was all a big mistake.

Hopefully you'll get some answers soon.

 

[Ratatosk]

Hopefully you'll get some answers, too. When the possibility of CF was first mentioned to us, I worried, cried, couldn't think straight. There was no family history. Because his mutations are fairly common, we got the genetic blood test results back within a week, but then someone ordered a sweat test and it came back normal. So we kept thinking it was all a big mistake.

Hopefully you'll get some answers soon.

 

[Ratatosk]

Hopefully you'll get some answers, too. When the possibility of CF was first mentioned to us, I worried, cried, couldn't think straight. There was no family history. Because his mutations are fairly common, we got the genetic blood test results back within a week, but then someone ordered a sweat test and it came back normal. So we kept thinking it was all a big mistake.

Hopefully you'll get some answers soon.

 

[Ratatosk]

Hopefully you'll get some answers, too. When the possibility of CF was first mentioned to us, I worried, cried, couldn't think straight. There was no family history. Because his mutations are fairly common, we got the genetic blood test results back within a week, but then someone ordered a sweat test and it came back normal. So we kept thinking it was all a big mistake.
<br />
<br />Hopefully you'll get some answers soon.

 

[TampaDad]

Thanks for the encouraging words guys. I know all of you with CF kids would rather be where I am right now knowing of only one mutation, than having a confirmation of two. Nevertheless, it is awfully stressful, considering all of the conflicting information about sweat tests, different levels of genetic screening, and trying to run the odds in my head.

I'm going to go forward with the Ambry test come hell or high water. Thanks.

 

[TampaDad]

Thanks for the encouraging words guys. I know all of you with CF kids would rather be where I am right now knowing of only one mutation, than having a confirmation of two. Nevertheless, it is awfully stressful, considering all of the conflicting information about sweat tests, different levels of genetic screening, and trying to run the odds in my head.

I'm going to go forward with the Ambry test come hell or high water. Thanks.

 

[TampaDad]

Thanks for the encouraging words guys. I know all of you with CF kids would rather be where I am right now knowing of only one mutation, than having a confirmation of two. Nevertheless, it is awfully stressful, considering all of the conflicting information about sweat tests, different levels of genetic screening, and trying to run the odds in my head.

I'm going to go forward with the Ambry test come hell or high water. Thanks.

 

[TampaDad]

Thanks for the encouraging words guys. I know all of you with CF kids would rather be where I am right now knowing of only one mutation, than having a confirmation of two. Nevertheless, it is awfully stressful, considering all of the conflicting information about sweat tests, different levels of genetic screening, and trying to run the odds in my head.

I'm going to go forward with the Ambry test come hell or high water. Thanks.

 

[TampaDad]

Thanks for the encouraging words guys. I know all of you with CF kids would rather be where I am right now knowing of only one mutation, than having a confirmation of two. Nevertheless, it is awfully stressful, considering all of the conflicting information about sweat tests, different levels of genetic screening, and trying to run the odds in my head.
<br />
<br />I'm going to go forward with the Ambry test come hell or high water. Thanks.