Sweat Test came back, what's most likely?

[gregdpowell]

Hey Everyone, I made a post in another section but I wanted to ask your opinions on my situation.
Our son is almost 4 weeks old. His NBS came back with an elevated IRT of 72 and they did the basic genetic panel test. It showed he had 1 mutation (DF508). This afternoon we took him for a sweat test and the result was 30.

Our doctor at the center said the greatest probability was that he is a CF Carrier, but will have another test done in 2 weeks. From your experience, what do you think his prognosis will be? Obviously as a new dad, I am pretty worried. Weird thing is that if his results had been 29 then we'd be done with the testing.

Thanks so much for the feedback.

 

[gregdpowell]

Hey Everyone, I made a post in another section but I wanted to ask your opinions on my situation.
Our son is almost 4 weeks old. His NBS came back with an elevated IRT of 72 and they did the basic genetic panel test. It showed he had 1 mutation (DF508). This afternoon we took him for a sweat test and the result was 30.

Our doctor at the center said the greatest probability was that he is a CF Carrier, but will have another test done in 2 weeks. From your experience, what do you think his prognosis will be? Obviously as a new dad, I am pretty worried. Weird thing is that if his results had been 29 then we'd be done with the testing.

Thanks so much for the feedback.

 

[gregdpowell]

Hey Everyone, I made a post in another section but I wanted to ask your opinions on my situation.
<br />Our son is almost 4 weeks old. His NBS came back with an elevated IRT of 72 and they did the basic genetic panel test. It showed he had 1 mutation (DF508). This afternoon we took him for a sweat test and the result was 30.
<br />
<br />Our doctor at the center said the greatest probability was that he is a CF Carrier, but will have another test done in 2 weeks. From your experience, what do you think his prognosis will be? Obviously as a new dad, I am pretty worried. Weird thing is that if his results had been 29 then we'd be done with the testing.
<br />
<br />Thanks so much for the feedback.

 

[Ratatosk]

I'd want to know beyond a doubt whether my child had cf or not. Being there are over 1500 mutations, I'd push for additional testing. DS was born with a bowel obstruction, so doctors suspected he had cf. DS didn't have newborn screening -- his sweat test was 32 at age 3-4 weeks; however, blood tests indicated he did have cf.

 

[Ratatosk]

I'd want to know beyond a doubt whether my child had cf or not. Being there are over 1500 mutations, I'd push for additional testing. DS was born with a bowel obstruction, so doctors suspected he had cf. DS didn't have newborn screening -- his sweat test was 32 at age 3-4 weeks; however, blood tests indicated he did have cf.

 

[Ratatosk]

I'd want to know beyond a doubt whether my child had cf or not. Being there are over 1500 mutations, I'd push for additional testing. DS was born with a bowel obstruction, so doctors suspected he had cf. DS didn't have newborn screening -- his sweat test was 32 at age 3-4 weeks; however, blood tests indicated he did have cf.

 

[gregdpowell]

Thanks Ratatosk for the reply. How long ago was this done? We had the initial genetic test done which found a single DF508 mutation. I know there are tons more possible mutations out there, however I'd assume the basic panel tests for the most common ones. If he was double 508 wouldn't that should on the first panel?

Thanks again.

 

[gregdpowell]

Thanks Ratatosk for the reply. How long ago was this done? We had the initial genetic test done which found a single DF508 mutation. I know there are tons more possible mutations out there, however I'd assume the basic panel tests for the most common ones. If he was double 508 wouldn't that should on the first panel?

Thanks again.

 

[gregdpowell]

Thanks Ratatosk for the reply. How long ago was this done? We had the initial genetic test done which found a single DF508 mutation. I know there are tons more possible mutations out there, however I'd assume the basic panel tests for the most common ones. If he was double 508 wouldn't that should on the first panel?
<br />
<br />Thanks again.

 

[Ratatosk]

This was done over 7 years ago and DS' panel was sent to mayo, which only tested for 90 of the most common cf mutations. And yes, double delta f508 showed up on that test.

 

[Ratatosk]

This was done over 7 years ago and DS' panel was sent to mayo, which only tested for 90 of the most common cf mutations. And yes, double delta f508 showed up on that test.

 

[Ratatosk]

This was done over 7 years ago and DS' panel was sent to mayo, which only tested for 90 of the most common cf mutations. And yes, double delta f508 showed up on that test.

 

[Beofett]

We had a similar situation.

First IRT came back elevated, and the genetic testing revealed DF508. We had sweat tests done at 2 months, with one arm coming back with insufficient sweat, and the other with a borderline reading (low 30s, iirc).

We had a second sweat test done a month later, and one arm was below 30, and the other just above 30. To be safe, our pediatrician referred us to the local CF center, where they had us test for pancreatic enzymes (present), and the full genetic screening.

The screening revealed a t-6 variation, which apparently can result in relatively higher levels of chloride transport function, but still results in CF when paired with another mutation (like the DF508 we already had confirmed my son had).

Its definitely worth going through with the additional testing, so that you'll know for certain one way or another. Our CF doctor told us that there are people with CF who have sufficient chloride transport functionality to give them results that put them into the "normal" result category for sweat tests, so being at the high end of the spectrum, especially with the DF508 mutation confirmed, is worth following up on.

That being said, our doctor did also tell us that having a single mutation could result in slightly elevated sweat test results, so it may very well be that that is what is happening with you.

 

[Beofett]

We had a similar situation.

First IRT came back elevated, and the genetic testing revealed DF508. We had sweat tests done at 2 months, with one arm coming back with insufficient sweat, and the other with a borderline reading (low 30s, iirc).

We had a second sweat test done a month later, and one arm was below 30, and the other just above 30. To be safe, our pediatrician referred us to the local CF center, where they had us test for pancreatic enzymes (present), and the full genetic screening.

The screening revealed a t-6 variation, which apparently can result in relatively higher levels of chloride transport function, but still results in CF when paired with another mutation (like the DF508 we already had confirmed my son had).

Its definitely worth going through with the additional testing, so that you'll know for certain one way or another. Our CF doctor told us that there are people with CF who have sufficient chloride transport functionality to give them results that put them into the "normal" result category for sweat tests, so being at the high end of the spectrum, especially with the DF508 mutation confirmed, is worth following up on.

That being said, our doctor did also tell us that having a single mutation could result in slightly elevated sweat test results, so it may very well be that that is what is happening with you.

 

[Beofett]

We had a similar situation.
<br />
<br />First IRT came back elevated, and the genetic testing revealed DF508. We had sweat tests done at 2 months, with one arm coming back with insufficient sweat, and the other with a borderline reading (low 30s, iirc).
<br />
<br />We had a second sweat test done a month later, and one arm was below 30, and the other just above 30. To be safe, our pediatrician referred us to the local CF center, where they had us test for pancreatic enzymes (present), and the full genetic screening.
<br />
<br />The screening revealed a t-6 variation, which apparently can result in relatively higher levels of chloride transport function, but still results in CF when paired with another mutation (like the DF508 we already had confirmed my son had).
<br />
<br />Its definitely worth going through with the additional testing, so that you'll know for certain one way or another. Our CF doctor told us that there are people with CF who have sufficient chloride transport functionality to give them results that put them into the "normal" result category for sweat tests, so being at the high end of the spectrum, especially with the DF508 mutation confirmed, is worth following up on.
<br />
<br />That being said, our doctor did also tell us that having a single mutation could result in slightly elevated sweat test results, so it may very well be that that is what is happening with you.

 

[gregdpowell]

Thanks for the feedback. Honestly waiting another 2 weeks for another test is really hard. I am trying to calm myself down today but I have a feeling these coming weeks are going to be painful. I'll be praying for sure and trusting God has the plan for us.

Does anyone else know if being a CF carrier with DF508 can give you an elevated sweat test result like 30? I read some places that it can't and some say yes it can.

 

[gregdpowell]

Thanks for the feedback. Honestly waiting another 2 weeks for another test is really hard. I am trying to calm myself down today but I have a feeling these coming weeks are going to be painful. I'll be praying for sure and trusting God has the plan for us.

Does anyone else know if being a CF carrier with DF508 can give you an elevated sweat test result like 30? I read some places that it can't and some say yes it can.

 

[gregdpowell]

Thanks for the feedback. Honestly waiting another 2 weeks for another test is really hard. I am trying to calm myself down today but I have a feeling these coming weeks are going to be painful. I'll be praying for sure and trusting God has the plan for us.
<br />
<br />Does anyone else know if being a CF carrier with DF508 can give you an elevated sweat test result like 30? I read some places that it can't and some say yes it can.

 

[NancyLKF]

Hi! Welcome to the site. there is definitely a plan for you and your family and the next couple of weeks will be rough, but enjoy them! This could go either way for you with a 30 as the result unfortunately. My daughter with DDF508 scored a 94 on the sweat test and my daughter who is a DF508 carrier scored an 11. I sincerely hope your son doesn't have CF, but if he does you have found an invaluable resource in this site. I'll keep you in my prayers. please let us know what happens either way.

 

[NancyLKF]

Hi! Welcome to the site. there is definitely a plan for you and your family and the next couple of weeks will be rough, but enjoy them! This could go either way for you with a 30 as the result unfortunately. My daughter with DDF508 scored a 94 on the sweat test and my daughter who is a DF508 carrier scored an 11. I sincerely hope your son doesn't have CF, but if he does you have found an invaluable resource in this site. I'll keep you in my prayers. please let us know what happens either way.