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Which 46 mutations are included in the newborn screen?
- Thread starter dlo2977
- Start date
M
Mommafirst
Guest
The newborn screen doesn't check for genetic mutations, it looks for IRT (Immunoreactive trypsinogen ) which tends to be higher in those with CF and those that carry some mutations. About 90% of those that have a positive screen are "just carriers". There is also a small likelihood of false negatives as well.
If you are talking about a basic panel that is done, it is different for each testing company. So if a 46 mutation panel is done, you'd need to look at the results to see which ones were tested.
If you are talking about a basic panel that is done, it is different for each testing company. So if a 46 mutation panel is done, you'd need to look at the results to see which ones were tested.
M
Mommafirst
Guest
The newborn screen doesn't check for genetic mutations, it looks for IRT (Immunoreactive trypsinogen ) which tends to be higher in those with CF and those that carry some mutations. About 90% of those that have a positive screen are "just carriers". There is also a small likelihood of false negatives as well.
If you are talking about a basic panel that is done, it is different for each testing company. So if a 46 mutation panel is done, you'd need to look at the results to see which ones were tested.
If you are talking about a basic panel that is done, it is different for each testing company. So if a 46 mutation panel is done, you'd need to look at the results to see which ones were tested.
M
Mommafirst
Guest
The newborn screen doesn't check for genetic mutations, it looks for IRT (Immunoreactive trypsinogen ) which tends to be higher in those with CF and those that carry some mutations. About 90% of those that have a positive screen are "just carriers". There is also a small likelihood of false negatives as well.
<br />
<br />If you are talking about a basic panel that is done, it is different for each testing company. So if a 46 mutation panel is done, you'd need to look at the results to see which ones were tested.
<br />
<br />If you are talking about a basic panel that is done, it is different for each testing company. So if a 46 mutation panel is done, you'd need to look at the results to see which ones were tested.
Hi Dana,
States that participate in NBS test the IRT level in the newborn's blood. In New Jersey, for example, if IRT is above a certain level they test for delta f508 and that is the only mutation tested. If the IRT is between 90 and 130 and no f508 the screen is negative and parent's are not notified. So, there is a big gap and people are missed in NBS. This was the case for my son. NJ needs a multi mutation panel for infants with an elevated IRT but it has not been implemented yet. Also, if IRT is above 130 in jersey they check for f508 and if that is negative, they repeat IRT. So it is a strange process that many are confused by. Hope this helps. Here is a link to New Jersey's NBS program. On the last page there is an algorithm for NBS. This is different in every state. Best wishes to you and your family!!!
<a target=_blank class=ftalternatingbarlinklarge href="http://www.state.nj.us/health/fhs/nbs/documents/fibrosis_prof.pdf">http://www.state.nj.us/health/...ents/fibrosis_prof.pdf</a>
States that participate in NBS test the IRT level in the newborn's blood. In New Jersey, for example, if IRT is above a certain level they test for delta f508 and that is the only mutation tested. If the IRT is between 90 and 130 and no f508 the screen is negative and parent's are not notified. So, there is a big gap and people are missed in NBS. This was the case for my son. NJ needs a multi mutation panel for infants with an elevated IRT but it has not been implemented yet. Also, if IRT is above 130 in jersey they check for f508 and if that is negative, they repeat IRT. So it is a strange process that many are confused by. Hope this helps. Here is a link to New Jersey's NBS program. On the last page there is an algorithm for NBS. This is different in every state. Best wishes to you and your family!!!
<a target=_blank class=ftalternatingbarlinklarge href="http://www.state.nj.us/health/fhs/nbs/documents/fibrosis_prof.pdf">http://www.state.nj.us/health/...ents/fibrosis_prof.pdf</a>
Hi Dana,
States that participate in NBS test the IRT level in the newborn's blood. In New Jersey, for example, if IRT is above a certain level they test for delta f508 and that is the only mutation tested. If the IRT is between 90 and 130 and no f508 the screen is negative and parent's are not notified. So, there is a big gap and people are missed in NBS. This was the case for my son. NJ needs a multi mutation panel for infants with an elevated IRT but it has not been implemented yet. Also, if IRT is above 130 in jersey they check for f508 and if that is negative, they repeat IRT. So it is a strange process that many are confused by. Hope this helps. Here is a link to New Jersey's NBS program. On the last page there is an algorithm for NBS. This is different in every state. Best wishes to you and your family!!!
<a target=_blank class=ftalternatingbarlinklarge href="http://www.state.nj.us/health/fhs/nbs/documents/fibrosis_prof.pdf">http://www.state.nj.us/health/...ents/fibrosis_prof.pdf</a>
States that participate in NBS test the IRT level in the newborn's blood. In New Jersey, for example, if IRT is above a certain level they test for delta f508 and that is the only mutation tested. If the IRT is between 90 and 130 and no f508 the screen is negative and parent's are not notified. So, there is a big gap and people are missed in NBS. This was the case for my son. NJ needs a multi mutation panel for infants with an elevated IRT but it has not been implemented yet. Also, if IRT is above 130 in jersey they check for f508 and if that is negative, they repeat IRT. So it is a strange process that many are confused by. Hope this helps. Here is a link to New Jersey's NBS program. On the last page there is an algorithm for NBS. This is different in every state. Best wishes to you and your family!!!
<a target=_blank class=ftalternatingbarlinklarge href="http://www.state.nj.us/health/fhs/nbs/documents/fibrosis_prof.pdf">http://www.state.nj.us/health/...ents/fibrosis_prof.pdf</a>
Hi Dana,
<br />States that participate in NBS test the IRT level in the newborn's blood. In New Jersey, for example, if IRT is above a certain level they test for delta f508 and that is the only mutation tested. If the IRT is between 90 and 130 and no f508 the screen is negative and parent's are not notified. So, there is a big gap and people are missed in NBS. This was the case for my son. NJ needs a multi mutation panel for infants with an elevated IRT but it has not been implemented yet. Also, if IRT is above 130 in jersey they check for f508 and if that is negative, they repeat IRT. So it is a strange process that many are confused by. Hope this helps. Here is a link to New Jersey's NBS program. On the last page there is an algorithm for NBS. This is different in every state. Best wishes to you and your family!!!
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.state.nj.us/health/fhs/nbs/documents/fibrosis_prof.pdf">http://www.state.nj.us/health/...ents/fibrosis_prof.pdf</a>
<br />States that participate in NBS test the IRT level in the newborn's blood. In New Jersey, for example, if IRT is above a certain level they test for delta f508 and that is the only mutation tested. If the IRT is between 90 and 130 and no f508 the screen is negative and parent's are not notified. So, there is a big gap and people are missed in NBS. This was the case for my son. NJ needs a multi mutation panel for infants with an elevated IRT but it has not been implemented yet. Also, if IRT is above 130 in jersey they check for f508 and if that is negative, they repeat IRT. So it is a strange process that many are confused by. Hope this helps. Here is a link to New Jersey's NBS program. On the last page there is an algorithm for NBS. This is different in every state. Best wishes to you and your family!!!
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.state.nj.us/health/fhs/nbs/documents/fibrosis_prof.pdf">http://www.state.nj.us/health/...ents/fibrosis_prof.pdf</a>
In Indiana, they do the IRT and if it is above a certain level, they screen for 46 mutations. I am asking for a friend of mine whose daughter does not have CF but she is a carrier. I can't find any info on the mutation she tested positive for so I think my friend write it down wrong.
In Indiana, they do the IRT and if it is above a certain level, they screen for 46 mutations. I am asking for a friend of mine whose daughter does not have CF but she is a carrier. I can't find any info on the mutation she tested positive for so I think my friend write it down wrong.
In Indiana, they do the IRT and if it is above a certain level, they screen for 46 mutations. I am asking for a friend of mine whose daughter does not have CF but she is a carrier. I can't find any info on the mutation she tested positive for so I think my friend write it down wrong.
M
Mommafirst
Guest
ah, I understand now. I would think that somewhere on the Indiana state medical website they would have that info. Good luck!!!
M
Mommafirst
Guest
ah, I understand now. I would think that somewhere on the Indiana state medical website they would have that info. Good luck!!!
M
Mommafirst
Guest
ah, I understand now. I would think that somewhere on the Indiana state medical website they would have that info. Good luck!!!
Yeah, states vary a great deal in how they screen. A universal way of screening would be helpful, I think (i.e. IRT/screening for as many mutations as practical.) From what I've been able to figure out from research, there are several forms of screening that are done depending on where you live, and parents are told of any suspicious results at various stages. I personally think parents should be told at the first abnormal result. Upsetting? Yes. But it is their right to know.
Possible scenarios:
IRT, then if high, a repeat IRT, if still high a sweat test is recommended.
IRT, then if high, a df508 is performed
IRT, then if high, a panel is done. Some states screen for as few as 23 mutations, other more (i.e. 30 or 40 something.)
In any case, screening by IRT is not diagnostic; it will flag many babies that do not have cf. Most with elevated IRT do not have cf. The genetic panel is not diagnostic either unless it identifies two mutations. Therefore, any baby that has any test results that are not completely normal PLUS symptoms of concern but is deemed 'borderline' or 'just a carrier' should have more thorough genetic testing to be sure.
Possible scenarios:
IRT, then if high, a repeat IRT, if still high a sweat test is recommended.
IRT, then if high, a df508 is performed
IRT, then if high, a panel is done. Some states screen for as few as 23 mutations, other more (i.e. 30 or 40 something.)
In any case, screening by IRT is not diagnostic; it will flag many babies that do not have cf. Most with elevated IRT do not have cf. The genetic panel is not diagnostic either unless it identifies two mutations. Therefore, any baby that has any test results that are not completely normal PLUS symptoms of concern but is deemed 'borderline' or 'just a carrier' should have more thorough genetic testing to be sure.
Yeah, states vary a great deal in how they screen. A universal way of screening would be helpful, I think (i.e. IRT/screening for as many mutations as practical.) From what I've been able to figure out from research, there are several forms of screening that are done depending on where you live, and parents are told of any suspicious results at various stages. I personally think parents should be told at the first abnormal result. Upsetting? Yes. But it is their right to know.
Possible scenarios:
IRT, then if high, a repeat IRT, if still high a sweat test is recommended.
IRT, then if high, a df508 is performed
IRT, then if high, a panel is done. Some states screen for as few as 23 mutations, other more (i.e. 30 or 40 something.)
In any case, screening by IRT is not diagnostic; it will flag many babies that do not have cf. Most with elevated IRT do not have cf. The genetic panel is not diagnostic either unless it identifies two mutations. Therefore, any baby that has any test results that are not completely normal PLUS symptoms of concern but is deemed 'borderline' or 'just a carrier' should have more thorough genetic testing to be sure.
Possible scenarios:
IRT, then if high, a repeat IRT, if still high a sweat test is recommended.
IRT, then if high, a df508 is performed
IRT, then if high, a panel is done. Some states screen for as few as 23 mutations, other more (i.e. 30 or 40 something.)
In any case, screening by IRT is not diagnostic; it will flag many babies that do not have cf. Most with elevated IRT do not have cf. The genetic panel is not diagnostic either unless it identifies two mutations. Therefore, any baby that has any test results that are not completely normal PLUS symptoms of concern but is deemed 'borderline' or 'just a carrier' should have more thorough genetic testing to be sure.
Yeah, states vary a great deal in how they screen. A universal way of screening would be helpful, I think (i.e. IRT/screening for as many mutations as practical.) From what I've been able to figure out from research, there are several forms of screening that are done depending on where you live, and parents are told of any suspicious results at various stages. I personally think parents should be told at the first abnormal result. Upsetting? Yes. But it is their right to know.
<br />
<br />Possible scenarios:
<br />IRT, then if high, a repeat IRT, if still high a sweat test is recommended.
<br />IRT, then if high, a df508 is performed
<br />IRT, then if high, a panel is done. Some states screen for as few as 23 mutations, other more (i.e. 30 or 40 something.)
<br />
<br />In any case, screening by IRT is not diagnostic; it will flag many babies that do not have cf. Most with elevated IRT do not have cf. The genetic panel is not diagnostic either unless it identifies two mutations. Therefore, any baby that has any test results that are not completely normal PLUS symptoms of concern but is deemed 'borderline' or 'just a carrier' should have more thorough genetic testing to be sure.
<br />
<br />
<br />Possible scenarios:
<br />IRT, then if high, a repeat IRT, if still high a sweat test is recommended.
<br />IRT, then if high, a df508 is performed
<br />IRT, then if high, a panel is done. Some states screen for as few as 23 mutations, other more (i.e. 30 or 40 something.)
<br />
<br />In any case, screening by IRT is not diagnostic; it will flag many babies that do not have cf. Most with elevated IRT do not have cf. The genetic panel is not diagnostic either unless it identifies two mutations. Therefore, any baby that has any test results that are not completely normal PLUS symptoms of concern but is deemed 'borderline' or 'just a carrier' should have more thorough genetic testing to be sure.
<br />