I know from reading other online information...that bilirubin can affect the test for cf...if that is correct or i'm understanding it correctly then it would make sense to run the screen again.. peditrician informed me this was the second one that came back with it not the first. Would they run a second screening without any suspicion to base it on? She did not say that they ran it only for cf so I'm uncertain that it was that specific a suspicion. So just curious about that.. then my next question is the Ped said something that we have to pass the exact same gene for her to get it but many of you list that your children have two different mutations.. So it just that you both have to pass a defective gene or both pass the same mutation of the same gene? I don't know I was very confused by her explanation. I am looking for clarification if anyone can help I'd appreciate it. Thanks
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confused some more
- Thread starter mlag2010
- Start date
I know from reading other online information...that bilirubin can affect the test for cf...if that is correct or i'm understanding it correctly then it would make sense to run the screen again.. peditrician informed me this was the second one that came back with it not the first. Would they run a second screening without any suspicion to base it on? She did not say that they ran it only for cf so I'm uncertain that it was that specific a suspicion. So just curious about that.. then my next question is the Ped said something that we have to pass the exact same gene for her to get it but many of you list that your children have two different mutations.. So it just that you both have to pass a defective gene or both pass the same mutation of the same gene? I don't know I was very confused by her explanation. I am looking for clarification if anyone can help I'd appreciate it. Thanks
I know from reading other online information...that bilirubin can affect the test for cf...if that is correct or i'm understanding it correctly then it would make sense to run the screen again.. peditrician informed me this was the second one that came back with it not the first. Would they run a second screening without any suspicion to base it on? She did not say that they ran it only for cf so I'm uncertain that it was that specific a suspicion. So just curious about that.. then my next question is the Ped said something that we have to pass the exact same gene for her to get it but many of you list that your children have two different mutations.. So it just that you both have to pass a defective gene or both pass the same mutation of the same gene? I don't know I was very confused by her explanation. I am looking for clarification if anyone can help I'd appreciate it. Thanks
Hello! I can't understand the explanation for running a second screen when the initial screen didn't show an abnormal value. Perhaps your pediatrician didn't clarify well enough? An initial elevated level (in this case, I'm assuming IRT level) isn't cause for concern, per se, as it can be elevated for other reasons (e.g., jaundice/elevated bilirubin). A second screen with an elevated value may be what she was referring to as concerning - or that it was more definitive toward a true elevation of concern. I hope I'm making sense!! Testing varies from state-to-state...we're in California where a newborn elevated IRT is followed by a basic CF mutation blood test - not a second IRT level. Perhaps this relates to state funding...
In order for an individual to have CF, they must inherit one gene from each parent. Providing neither parent has CF, their parents are CF-carriers. This means that they carry one non-mutated CFTR gene and one mutated CFTR. One functioning CFTR gene allows normal function of the CFTR protein, therefore, the child's parents aren't affected by the condition. There are well over 1000 known mutations of the CFTR gene. An individual can have CF by carrying ANY pairing of mutations. If you and your husband are carriers, you both have one normal and one abnormal CFTR locus on your DNA strand. They pair together and result in a normal-functioning CFTR gene. Your child has a 25% chance of having CF....50% chance of being a carrier...25% chance of being a non-carrier.
Hope this helps...
In order for an individual to have CF, they must inherit one gene from each parent. Providing neither parent has CF, their parents are CF-carriers. This means that they carry one non-mutated CFTR gene and one mutated CFTR. One functioning CFTR gene allows normal function of the CFTR protein, therefore, the child's parents aren't affected by the condition. There are well over 1000 known mutations of the CFTR gene. An individual can have CF by carrying ANY pairing of mutations. If you and your husband are carriers, you both have one normal and one abnormal CFTR locus on your DNA strand. They pair together and result in a normal-functioning CFTR gene. Your child has a 25% chance of having CF....50% chance of being a carrier...25% chance of being a non-carrier.
Hope this helps...
Hello! I can't understand the explanation for running a second screen when the initial screen didn't show an abnormal value. Perhaps your pediatrician didn't clarify well enough? An initial elevated level (in this case, I'm assuming IRT level) isn't cause for concern, per se, as it can be elevated for other reasons (e.g., jaundice/elevated bilirubin). A second screen with an elevated value may be what she was referring to as concerning - or that it was more definitive toward a true elevation of concern. I hope I'm making sense!! Testing varies from state-to-state...we're in California where a newborn elevated IRT is followed by a basic CF mutation blood test - not a second IRT level. Perhaps this relates to state funding...
In order for an individual to have CF, they must inherit one gene from each parent. Providing neither parent has CF, their parents are CF-carriers. This means that they carry one non-mutated CFTR gene and one mutated CFTR. One functioning CFTR gene allows normal function of the CFTR protein, therefore, the child's parents aren't affected by the condition. There are well over 1000 known mutations of the CFTR gene. An individual can have CF by carrying ANY pairing of mutations. If you and your husband are carriers, you both have one normal and one abnormal CFTR locus on your DNA strand. They pair together and result in a normal-functioning CFTR gene. Your child has a 25% chance of having CF....50% chance of being a carrier...25% chance of being a non-carrier.
Hope this helps...
In order for an individual to have CF, they must inherit one gene from each parent. Providing neither parent has CF, their parents are CF-carriers. This means that they carry one non-mutated CFTR gene and one mutated CFTR. One functioning CFTR gene allows normal function of the CFTR protein, therefore, the child's parents aren't affected by the condition. There are well over 1000 known mutations of the CFTR gene. An individual can have CF by carrying ANY pairing of mutations. If you and your husband are carriers, you both have one normal and one abnormal CFTR locus on your DNA strand. They pair together and result in a normal-functioning CFTR gene. Your child has a 25% chance of having CF....50% chance of being a carrier...25% chance of being a non-carrier.
Hope this helps...
Hello! I can't understand the explanation for running a second screen when the initial screen didn't show an abnormal value. Perhaps your pediatrician didn't clarify well enough? An initial elevated level (in this case, I'm assuming IRT level) isn't cause for concern, per se, as it can be elevated for other reasons (e.g., jaundice/elevated bilirubin). A second screen with an elevated value may be what she was referring to as concerning - or that it was more definitive toward a true elevation of concern. I hope I'm making sense!! Testing varies from state-to-state...we're in California where a newborn elevated IRT is followed by a basic CF mutation blood test - not a second IRT level. Perhaps this relates to state funding...
<br />
<br />In order for an individual to have CF, they must inherit one gene from each parent. Providing neither parent has CF, their parents are CF-carriers. This means that they carry one non-mutated CFTR gene and one mutated CFTR. One functioning CFTR gene allows normal function of the CFTR protein, therefore, the child's parents aren't affected by the condition. There are well over 1000 known mutations of the CFTR gene. An individual can have CF by carrying ANY pairing of mutations. If you and your husband are carriers, you both have one normal and one abnormal CFTR locus on your DNA strand. They pair together and result in a normal-functioning CFTR gene. Your child has a 25% chance of having CF....50% chance of being a carrier...25% chance of being a non-carrier.
<br />
<br />Hope this helps...
<br />
<br />In order for an individual to have CF, they must inherit one gene from each parent. Providing neither parent has CF, their parents are CF-carriers. This means that they carry one non-mutated CFTR gene and one mutated CFTR. One functioning CFTR gene allows normal function of the CFTR protein, therefore, the child's parents aren't affected by the condition. There are well over 1000 known mutations of the CFTR gene. An individual can have CF by carrying ANY pairing of mutations. If you and your husband are carriers, you both have one normal and one abnormal CFTR locus on your DNA strand. They pair together and result in a normal-functioning CFTR gene. Your child has a 25% chance of having CF....50% chance of being a carrier...25% chance of being a non-carrier.
<br />
<br />Hope this helps...