R117H question

[hmw]

<div class="FTQUOTE"><begin quote>I also found it worrisome from birth that DD had an elevated IRT but was simply a carrier per the state's test.</end quote></div>
The IRT is only a screening test, not a diagnostic one. While far from all babies with an elevated IRT have cf, when a child born of two known carriers has a high result I agree that this IS a cause for concern, despite the fact that she passed her sweat tests.

Some states have a two-tiered newborn screening process for CF: they will test for the df508 gene if a baby has an elevated IRT result. If this is what happened in her case, they might be calling her a carrier because of finding the df508 gene yet having a normal sweat test. (IRT results alone <i>cannot</i> determine carrier status, so if they specifically told you she was a carrier, find out what test she has had already to lead them to believe this.)

In any case, it would be impossible to know if she was only a carrier unless she was tested for both mutations. I hope this can get resolved soon... knowing is always better.

 

[hmw]

<div class="FTQUOTE"><begin quote>I also found it worrisome from birth that DD had an elevated IRT but was simply a carrier per the state's test.</end quote></div>
The IRT is only a screening test, not a diagnostic one. While far from all babies with an elevated IRT have cf, when a child born of two known carriers has a high result I agree that this IS a cause for concern, despite the fact that she passed her sweat tests.

Some states have a two-tiered newborn screening process for CF: they will test for the df508 gene if a baby has an elevated IRT result. If this is what happened in her case, they might be calling her a carrier because of finding the df508 gene yet having a normal sweat test. (IRT results alone <i>cannot</i> determine carrier status, so if they specifically told you she was a carrier, find out what test she has had already to lead them to believe this.)

In any case, it would be impossible to know if she was only a carrier unless she was tested for both mutations. I hope this can get resolved soon... knowing is always better.

 

[hmw]

<div class="FTQUOTE"><begin quote>I also found it worrisome from birth that DD had an elevated IRT but was simply a carrier per the state's test.</end quote></div>
The IRT is only a screening test, not a diagnostic one. While far from all babies with an elevated IRT have cf, when a child born of two known carriers has a high result I agree that this IS a cause for concern, despite the fact that she passed her sweat tests.

Some states have a two-tiered newborn screening process for CF: they will test for the df508 gene if a baby has an elevated IRT result. If this is what happened in her case, they might be calling her a carrier because of finding the df508 gene yet having a normal sweat test. (IRT results alone <i>cannot</i> determine carrier status, so if they specifically told you she was a carrier, find out what test she has had already to lead them to believe this.)

In any case, it would be impossible to know if she was only a carrier unless she was tested for both mutations. I hope this can get resolved soon... knowing is always better.

 

[hmw]

<div class="FTQUOTE"><begin quote>I also found it worrisome from birth that DD had an elevated IRT but was simply a carrier per the state's test.</end quote>
The IRT is only a screening test, not a diagnostic one. While far from all babies with an elevated IRT have cf, when a child born of two known carriers has a high result I agree that this IS a cause for concern, despite the fact that she passed her sweat tests.

Some states have a two-tiered newborn screening process for CF: they will test for the df508 gene if a baby has an elevated IRT result. If this is what happened in her case, they might be calling her a carrier because of finding the df508 gene yet having a normal sweat test. (IRT results alone <i>cannot</i> determine carrier status, so if they specifically told you she was a carrier, find out what test she has had already to lead them to believe this.)

In any case, it would be impossible to know if she was only a carrier unless she was tested for both mutations. I hope this can get resolved soon... knowing is always better.

 

[hmw]

<div class="FTQUOTE"><begin quote>I also found it worrisome from birth that DD had an elevated IRT but was simply a carrier per the state's test.</end quote>
<br />The IRT is only a screening test, not a diagnostic one. While far from all babies with an elevated IRT have cf, when a child born of two known carriers has a high result I agree that this IS a cause for concern, despite the fact that she passed her sweat tests.
<br />
<br />Some states have a two-tiered newborn screening process for CF: they will test for the df508 gene if a baby has an elevated IRT result. If this is what happened in her case, they might be calling her a carrier because of finding the df508 gene yet having a normal sweat test. (IRT results alone <i>cannot</i> determine carrier status, so if they specifically told you she was a carrier, find out what test she has had already to lead them to believe this.)
<br />
<br />In any case, it would be impossible to know if she was only a carrier unless she was tested for both mutations. I hope this can get resolved soon... knowing is always better.

 

[HappyHearts]

Thanks again Harriet. I double checked my state's website and came up with this on their CF FAQ's:

1. What is a "positive CF NBS" and what does it mean?
It means that the immunotrypsinogen assay (IRT) tested in the upper 97.8% percentile for the day of the test. This triggered DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation. This test is only done on the first sample.
2. Does that mean my patient has CF?
That means that child possesses at least 1 common gene for CF gene mutation. It also means one of their parents also must carry the gene. Your patient is at least a carrier of one CF gene mutation.

The letter we received said "is most likely a carrier". I brought up the elevated IRT's, etc. to my pedi and he said the sweat test was enough. I didn't feel comfortable with it but didn't know where else to turn. Now 10 months later I find this site and info and I will feel much better once we get the test done and we can finally KNOW for good.

I think we'll be able to take her tomorrow. But with the holiday, not sure when we'll hear back!

 

[HappyHearts]

Thanks again Harriet. I double checked my state's website and came up with this on their CF FAQ's:

1. What is a "positive CF NBS" and what does it mean?
It means that the immunotrypsinogen assay (IRT) tested in the upper 97.8% percentile for the day of the test. This triggered DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation. This test is only done on the first sample.
2. Does that mean my patient has CF?
That means that child possesses at least 1 common gene for CF gene mutation. It also means one of their parents also must carry the gene. Your patient is at least a carrier of one CF gene mutation.

The letter we received said "is most likely a carrier". I brought up the elevated IRT's, etc. to my pedi and he said the sweat test was enough. I didn't feel comfortable with it but didn't know where else to turn. Now 10 months later I find this site and info and I will feel much better once we get the test done and we can finally KNOW for good.

I think we'll be able to take her tomorrow. But with the holiday, not sure when we'll hear back!

 

[HappyHearts]

Thanks again Harriet. I double checked my state's website and came up with this on their CF FAQ's:

1. What is a "positive CF NBS" and what does it mean?
It means that the immunotrypsinogen assay (IRT) tested in the upper 97.8% percentile for the day of the test. This triggered DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation. This test is only done on the first sample.
2. Does that mean my patient has CF?
That means that child possesses at least 1 common gene for CF gene mutation. It also means one of their parents also must carry the gene. Your patient is at least a carrier of one CF gene mutation.

The letter we received said "is most likely a carrier". I brought up the elevated IRT's, etc. to my pedi and he said the sweat test was enough. I didn't feel comfortable with it but didn't know where else to turn. Now 10 months later I find this site and info and I will feel much better once we get the test done and we can finally KNOW for good.

I think we'll be able to take her tomorrow. But with the holiday, not sure when we'll hear back!

 

[HappyHearts]

Thanks again Harriet. I double checked my state's website and came up with this on their CF FAQ's:

1. What is a "positive CF NBS" and what does it mean?
It means that the immunotrypsinogen assay (IRT) tested in the upper 97.8% percentile for the day of the test. This triggered DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation. This test is only done on the first sample.
2. Does that mean my patient has CF?
That means that child possesses at least 1 common gene for CF gene mutation. It also means one of their parents also must carry the gene. Your patient is at least a carrier of one CF gene mutation.

The letter we received said "is most likely a carrier". I brought up the elevated IRT's, etc. to my pedi and he said the sweat test was enough. I didn't feel comfortable with it but didn't know where else to turn. Now 10 months later I find this site and info and I will feel much better once we get the test done and we can finally KNOW for good.

I think we'll be able to take her tomorrow. But with the holiday, not sure when we'll hear back!

 

[HappyHearts]

Thanks again Harriet. I double checked my state's website and came up with this on their CF FAQ's:
<br />
<br />1. What is a "positive CF NBS" and what does it mean?
<br />It means that the immunotrypsinogen assay (IRT) tested in the upper 97.8% percentile for the day of the test. This triggered DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation. This test is only done on the first sample.
<br />2. Does that mean my patient has CF?
<br />That means that child possesses at least 1 common gene for CF gene mutation. It also means one of their parents also must carry the gene. Your patient is at least a carrier of one CF gene mutation.
<br />
<br />The letter we received said "is most likely a carrier". I brought up the elevated IRT's, etc. to my pedi and he said the sweat test was enough. I didn't feel comfortable with it but didn't know where else to turn. Now 10 months later I find this site and info and I will feel much better once we get the test done and we can finally KNOW for good.
<br />
<br />I think we'll be able to take her tomorrow. But with the holiday, not sure when we'll hear back!

 

[dyza]

reread your original posts, to me it would appear that your DD has not got CF. Your husband had been tested and it found him to have the RH117, from your DD testing where they tested for the top 46 mutations they did not find the RH117, which is deffo in the top 46 mutations. But to put your mind at rest.....get her tested again.

Craig

 

[dyza]

reread your original posts, to me it would appear that your DD has not got CF. Your husband had been tested and it found him to have the RH117, from your DD testing where they tested for the top 46 mutations they did not find the RH117, which is deffo in the top 46 mutations. But to put your mind at rest.....get her tested again.

Craig

 

[dyza]

reread your original posts, to me it would appear that your DD has not got CF. Your husband had been tested and it found him to have the RH117, from your DD testing where they tested for the top 46 mutations they did not find the RH117, which is deffo in the top 46 mutations. But to put your mind at rest.....get her tested again.

Craig

 

[dyza]

reread your original posts, to me it would appear that your DD has not got CF. Your husband had been tested and it found him to have the RH117, from your DD testing where they tested for the top 46 mutations they did not find the RH117, which is deffo in the top 46 mutations. But to put your mind at rest.....get her tested again.

Craig

 

[dyza]

reread your original posts, to me it would appear that your DD has not got CF. Your husband had been tested and it found him to have the RH117, from your DD testing where they tested for the top 46 mutations they did not find the RH117, which is deffo in the top 46 mutations. But to put your mind at rest.....get her tested again.
<br />
<br />Craig

 

[dmatherne]

I know that in Louisiana the elevated IRT level is the indicator to have the partial genetic testing done. Our son actually didn't have an elevated IRT, as per the cutoff, but was in the top 5% for births that day in the State. This normally then prompts at least partial DNA testing.

If you weren't called by your Pedi and given an explanation or referred to a CF center when your child has both the df508 & R117H, which should have been found in the newborn screen with the elevated IRT, I would definitely get a new Pedi.

I partially agree with 'dyza'. If your child had the newborn screen, then in most probability they may have found one mutation (which one?) and the status would be a carrier with an elevated IRT. The FAQ's you posted use the language: "DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation." And df508 & R117H would be in the the 46 genes. The newborn screen is designed to catch these mutations IF you child had an elevated IRT at birth. Hope all this helps. I know it can be confusing at times, but the one thing we found out early is that you burden the responsibility to find out things and ask questions. Don't hesitate to demand answers!

 

[dmatherne]

I know that in Louisiana the elevated IRT level is the indicator to have the partial genetic testing done. Our son actually didn't have an elevated IRT, as per the cutoff, but was in the top 5% for births that day in the State. This normally then prompts at least partial DNA testing.

If you weren't called by your Pedi and given an explanation or referred to a CF center when your child has both the df508 & R117H, which should have been found in the newborn screen with the elevated IRT, I would definitely get a new Pedi.

I partially agree with 'dyza'. If your child had the newborn screen, then in most probability they may have found one mutation (which one?) and the status would be a carrier with an elevated IRT. The FAQ's you posted use the language: "DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation." And df508 & R117H would be in the the 46 genes. The newborn screen is designed to catch these mutations IF you child had an elevated IRT at birth. Hope all this helps. I know it can be confusing at times, but the one thing we found out early is that you burden the responsibility to find out things and ask questions. Don't hesitate to demand answers!

 

[dmatherne]

I know that in Louisiana the elevated IRT level is the indicator to have the partial genetic testing done. Our son actually didn't have an elevated IRT, as per the cutoff, but was in the top 5% for births that day in the State. This normally then prompts at least partial DNA testing.

If you weren't called by your Pedi and given an explanation or referred to a CF center when your child has both the df508 & R117H, which should have been found in the newborn screen with the elevated IRT, I would definitely get a new Pedi.

I partially agree with 'dyza'. If your child had the newborn screen, then in most probability they may have found one mutation (which one?) and the status would be a carrier with an elevated IRT. The FAQ's you posted use the language: "DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation." And df508 & R117H would be in the the 46 genes. The newborn screen is designed to catch these mutations IF you child had an elevated IRT at birth. Hope all this helps. I know it can be confusing at times, but the one thing we found out early is that you burden the responsibility to find out things and ask questions. Don't hesitate to demand answers!

 

[dmatherne]

I know that in Louisiana the elevated IRT level is the indicator to have the partial genetic testing done. Our son actually didn't have an elevated IRT, as per the cutoff, but was in the top 5% for births that day in the State. This normally then prompts at least partial DNA testing.

If you weren't called by your Pedi and given an explanation or referred to a CF center when your child has both the df508 & R117H, which should have been found in the newborn screen with the elevated IRT, I would definitely get a new Pedi.

I partially agree with 'dyza'. If your child had the newborn screen, then in most probability they may have found one mutation (which one?) and the status would be a carrier with an elevated IRT. The FAQ's you posted use the language: "DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation." And df508 & R117H would be in the the 46 genes. The newborn screen is designed to catch these mutations IF you child had an elevated IRT at birth. Hope all this helps. I know it can be confusing at times, but the one thing we found out early is that you burden the responsibility to find out things and ask questions. Don't hesitate to demand answers!

 

[dmatherne]

I know that in Louisiana the elevated IRT level is the indicator to have the partial genetic testing done. Our son actually didn't have an elevated IRT, as per the cutoff, but was in the top 5% for births that day in the State. This normally then prompts at least partial DNA testing.
<br />
<br />If you weren't called by your Pedi and given an explanation or referred to a CF center when your child has both the df508 & R117H, which should have been found in the newborn screen with the elevated IRT, I would definitely get a new Pedi.
<br />
<br />I partially agree with 'dyza'. If your child had the newborn screen, then in most probability they may have found one mutation (which one?) and the status would be a carrier with an elevated IRT. The FAQ's you posted use the language: "DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation." And df508 & R117H would be in the the 46 genes. The newborn screen is designed to catch these mutations IF you child had an elevated IRT at birth. Hope all this helps. I know it can be confusing at times, but the one thing we found out early is that you burden the responsibility to find out things and ask questions. Don't hesitate to demand answers!