Test results

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ginnyv

New member
My grandson just had a sweat test today. The results were "borderline" and it was recommended that another test be done in one month. However he was positive for R553X mutation.. What does all this mean.....Is his test result borderline becasue he is only one month old? His postnatal screen came back positive and that is why the sweat test. They also said if another borderline test should come back in one month then another more comprehensive DNA test should be done. This is all so confusing and inconclusive to his parents and me. If he has the R553X mutation does that mean he has Cystic Fibrosis? or, does it just mean he is a carrier. Would really be interested in hearing from anyone who has "been there" and can give us advice on where to go next. What does all this mean?
Thanks for your input.
 
G

ginnyv

New member
My grandson just had a sweat test today. The results were "borderline" and it was recommended that another test be done in one month. However he was positive for R553X mutation.. What does all this mean.....Is his test result borderline becasue he is only one month old? His postnatal screen came back positive and that is why the sweat test. They also said if another borderline test should come back in one month then another more comprehensive DNA test should be done. This is all so confusing and inconclusive to his parents and me. If he has the R553X mutation does that mean he has Cystic Fibrosis? or, does it just mean he is a carrier. Would really be interested in hearing from anyone who has "been there" and can give us advice on where to go next. What does all this mean?
Thanks for your input.
 
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Emily65Roses

New member
Testing positive for that one gene alone would mean he is a carrier. But if he has another gene (a rarer one that wasn't detected yet), he could have CF. In short, you need two CF genes in order to have it. If you only carry it, you are symptom-free.

The fact that his sweat test came back borderline has nothing to do with his age. Are you having him tested at an accredited CF center? If not, I'd suggest making the move, even if only for the test. You can go to the smartest hospitals and doctors there are, but if they aren't specializing in CF specifically, then you're liable to get faulty testing, or incorrect results. The smartest of doctors, if they're not trained in CF, can *easily* read results incorrectly. So your first step would be to check whether or not the place he's going is CF accredited. You can check that here:
<a target=new class=ftalternatingbarlinklarge href="http://www.cff.org/chapters_and_care_centers/
">http://www.cff.org/chapters_and_care_centers/
</a>
As far as what the borderline test results mean... it could mean he has CF, it could mean absolutely nothing. You won't know either until they find another CF gene... or he sweat tests positive. (Little piece of helpful info... you CAN get false negatives for CF, while you CANNOT get a false positive).
 
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Emily65Roses

New member
Testing positive for that one gene alone would mean he is a carrier. But if he has another gene (a rarer one that wasn't detected yet), he could have CF. In short, you need two CF genes in order to have it. If you only carry it, you are symptom-free.

The fact that his sweat test came back borderline has nothing to do with his age. Are you having him tested at an accredited CF center? If not, I'd suggest making the move, even if only for the test. You can go to the smartest hospitals and doctors there are, but if they aren't specializing in CF specifically, then you're liable to get faulty testing, or incorrect results. The smartest of doctors, if they're not trained in CF, can *easily* read results incorrectly. So your first step would be to check whether or not the place he's going is CF accredited. You can check that here:
<a target=new class=ftalternatingbarlinklarge href="http://www.cff.org/chapters_and_care_centers/
">http://www.cff.org/chapters_and_care_centers/
</a>
As far as what the borderline test results mean... it could mean he has CF, it could mean absolutely nothing. You won't know either until they find another CF gene... or he sweat tests positive. (Little piece of helpful info... you CAN get false negatives for CF, while you CANNOT get a false positive).
 
B

becca23

New member
The rx553x mutation means, he is a carrier. Is he going to a cf accredited center? Is he showing any symptoms, if he is then I would recommend not waiting a month and going ahead with the comprhensive genetic test.
 
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becca23

New member
The rx553x mutation means, he is a carrier. Is he going to a cf accredited center? Is he showing any symptoms, if he is then I would recommend not waiting a month and going ahead with the comprhensive genetic test.
 
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julie

New member
Just wanted to ask a question to clairify something?? You said the docs found 1 mutation but the postnatal screen came back positive. I am married to a CFer and therefore not familiar with the new testig at birth. If it came back positive, I think that would be indicative of 2 mutations, right? Or am I misunderstanding something?

Honestly, I would recommend that with 1 mutation found and a bordrerline sweat test, that your grandson have an "extended panel" done. Quest Diagnostics laboratory does this and I would recommend you ask the doc to bypass doing "another sweat test" and just do the blood test. Here's some information on them, <a target=new class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/topics/cf/cf.html">http://www.questdiagnostics.com/hcp/topics/cf/cf.html</a>

Some young infants don't respond well to the sweat test, some adults don't respond at all to sweat tests, some people are forever borderline. I am sure there will be some postings on here (or you can use the search feature on the upper Right and look for "new diagnosis" "just diagnosed"...) because there are a number of children and adult's on this site who were negative-REPEATEDLY on the sweat test, and found to have 2 "common" CF mutations.


Welcome to the site and I hope you get your answers!!! Were here to help.
 
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julie

New member
Just wanted to ask a question to clairify something?? You said the docs found 1 mutation but the postnatal screen came back positive. I am married to a CFer and therefore not familiar with the new testig at birth. If it came back positive, I think that would be indicative of 2 mutations, right? Or am I misunderstanding something?

Honestly, I would recommend that with 1 mutation found and a bordrerline sweat test, that your grandson have an "extended panel" done. Quest Diagnostics laboratory does this and I would recommend you ask the doc to bypass doing "another sweat test" and just do the blood test. Here's some information on them, <a target=new class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/topics/cf/cf.html">http://www.questdiagnostics.com/hcp/topics/cf/cf.html</a>

Some young infants don't respond well to the sweat test, some adults don't respond at all to sweat tests, some people are forever borderline. I am sure there will be some postings on here (or you can use the search feature on the upper Right and look for "new diagnosis" "just diagnosed"...) because there are a number of children and adult's on this site who were negative-REPEATEDLY on the sweat test, and found to have 2 "common" CF mutations.


Welcome to the site and I hope you get your answers!!! Were here to help.
 
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anonymous

New member
My daughter in law did not have a prenatal screen done. But the testing they did on my grandson as part of his newborn screening came back positive for cystic fibrosis. that was the initial screen. from there they did the sweat test today, which they said was "borderline". and recommended another be done in one month. if that one came back borderline then they said he should have a more conculusive dna screen. But they stated they did identify the R553X mutation. They stated that was not one of the more common mutations??? Thanks so much for posting. I have learned alot already from this site. My son and daughter in law at this point feel so frustrated as they really don't know much more than they did to begin with. Just wanting to get some answers and make sure we head in the right direction to save putting the baby through anymore than we have to. Thanks again
 
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anonymous

New member
My daughter in law did not have a prenatal screen done. But the testing they did on my grandson as part of his newborn screening came back positive for cystic fibrosis. that was the initial screen. from there they did the sweat test today, which they said was "borderline". and recommended another be done in one month. if that one came back borderline then they said he should have a more conculusive dna screen. But they stated they did identify the R553X mutation. They stated that was not one of the more common mutations??? Thanks so much for posting. I have learned alot already from this site. My son and daughter in law at this point feel so frustrated as they really don't know much more than they did to begin with. Just wanting to get some answers and make sure we head in the right direction to save putting the baby through anymore than we have to. Thanks again
 
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eli

New member
I think Julie is right, when my daughter was born her Postnatal screen came back positive and the doc's said that is pretty much 100% conclusive, but we will also do a sweat test to confirm, and another prrenatal screen. Her sweat test was a little over borderline and her post-nat test was positive again, which confirmed CF.

The reason they did the post-nat check again was because sometimes the bloods get mixed up when sent to the lab, as they do thousands of them a day. So the doc's told us not to worry its prbably a mistake, 90% of these tests come back negative.
We thought thank god everything is fine, until they sat us down one day and said were very sorry but we have some bad news.I knew straight away what they were going to say (the results were positive, she has CF).

I hope in your case there is a mistake, best wishes and keep us posted.

Regards
Eli<img src="i/expressions/angel.gif" border="0">
 
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eli

New member
I think Julie is right, when my daughter was born her Postnatal screen came back positive and the doc's said that is pretty much 100% conclusive, but we will also do a sweat test to confirm, and another prrenatal screen. Her sweat test was a little over borderline and her post-nat test was positive again, which confirmed CF.

The reason they did the post-nat check again was because sometimes the bloods get mixed up when sent to the lab, as they do thousands of them a day. So the doc's told us not to worry its prbably a mistake, 90% of these tests come back negative.
We thought thank god everything is fine, until they sat us down one day and said were very sorry but we have some bad news.I knew straight away what they were going to say (the results were positive, she has CF).

I hope in your case there is a mistake, best wishes and keep us posted.

Regards
Eli<img src="i/expressions/angel.gif" border="0">
 
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imondeck

New member
A really informative site on newborn screening:

http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5313a1.htm

(copy/paste in your browser).

I wish they had this when my children were all born...
 
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imondeck

New member
A really informative site on newborn screening:

http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5313a1.htm

(copy/paste in your browser).

I wish they had this when my children were all born...
 
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