I have a question...please help me

[mrspmcd]

Hello,
I have a newborn baby, born 10/26. My husband and I are both carriers of the CF gene and are desperate to know of our new baby boy is affected;However, none of our doctors quite know how to help us! His IRT was in the normal range, however we still feel concerned and want a positive YES or NO answer! I was wondering how many of you were diagnosed with this disease? Was it through a sweat test? I thought there was a specific blood test (not the IRT) that could tell us whether or not our baby has the disease and if not, whether is a carrier of the gene....
Thank you.

 

[mrspmcd]

Hello,
I have a newborn baby, born 10/26. My husband and I are both carriers of the CF gene and are desperate to know of our new baby boy is affected;However, none of our doctors quite know how to help us! His IRT was in the normal range, however we still feel concerned and want a positive YES or NO answer! I was wondering how many of you were diagnosed with this disease? Was it through a sweat test? I thought there was a specific blood test (not the IRT) that could tell us whether or not our baby has the disease and if not, whether is a carrier of the gene....
Thank you.

 

[mrspmcd]

Hello,
<br />I have a newborn baby, born 10/26. My husband and I are both carriers of the CF gene and are desperate to know of our new baby boy is affected;However, none of our doctors quite know how to help us! His IRT was in the normal range, however we still feel concerned and want a positive YES or NO answer! I was wondering how many of you were diagnosed with this disease? Was it through a sweat test? I thought there was a specific blood test (not the IRT) that could tell us whether or not our baby has the disease and if not, whether is a carrier of the gene....
<br />Thank you.

 

[hmw]

Your baby can, and should, be given a genetic test to see if he has cf or is a carrier. There are 2 types of tests- panels checking for a set of mutations or more thorough genetic sequencing. Since you and your husband know you are carriers, find out if the mutations you carry are included on one of the basic panel tests; that will be the easiest way to test him if that is the case. If they are not on one of these tests (there are well over 1,500 mutations so this is possible), you can have a special genetic test ordered that will test your baby for you & your dh's specific mutations.

Sweat tests are not always reliable with babies. Since you and your dh know your mutations, it makes sense to simply test the baby for them, since that would certainly be done anyway if your baby had a sweat test that turned up even slightly elevated...

Wishing you the very best. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I am hoping that this testing is simply to yield you peace of mind, and that your son is perfectly healthy and stays that way! <img src="i/expressions/rose.gif" border="0"> We are here to try and answer any other questions you have.

 

[hmw]

Your baby can, and should, be given a genetic test to see if he has cf or is a carrier. There are 2 types of tests- panels checking for a set of mutations or more thorough genetic sequencing. Since you and your husband know you are carriers, find out if the mutations you carry are included on one of the basic panel tests; that will be the easiest way to test him if that is the case. If they are not on one of these tests (there are well over 1,500 mutations so this is possible), you can have a special genetic test ordered that will test your baby for you & your dh's specific mutations.

Sweat tests are not always reliable with babies. Since you and your dh know your mutations, it makes sense to simply test the baby for them, since that would certainly be done anyway if your baby had a sweat test that turned up even slightly elevated...

Wishing you the very best. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I am hoping that this testing is simply to yield you peace of mind, and that your son is perfectly healthy and stays that way! <img src="i/expressions/rose.gif" border="0"> We are here to try and answer any other questions you have.

 

[hmw]

Your baby can, and should, be given a genetic test to see if he has cf or is a carrier. There are 2 types of tests- panels checking for a set of mutations or more thorough genetic sequencing. Since you and your husband know you are carriers, find out if the mutations you carry are included on one of the basic panel tests; that will be the easiest way to test him if that is the case. If they are not on one of these tests (there are well over 1,500 mutations so this is possible), you can have a special genetic test ordered that will test your baby for you & your dh's specific mutations.
<br />
<br />Sweat tests are not always reliable with babies. Since you and your dh know your mutations, it makes sense to simply test the baby for them, since that would certainly be done anyway if your baby had a sweat test that turned up even slightly elevated...
<br />
<br />Wishing you the very best. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I am hoping that this testing is simply to yield you peace of mind, and that your son is perfectly healthy and stays that way! <img src="i/expressions/rose.gif" border="0"> We are here to try and answer any other questions you have.

 

[sdelorenzo]

Congratulations on your baby boy! I just had a baby girl who is 6 weeks. It took a week to get her blood test back. It should be simple for you to do as well. Call Ambry Genetics at 1-949-900-5500. Talk to them about which testing you will need done (type of genes you and your husband carry). Then you print out the paperwork from their web site and get the pediatrician to sign the paperwork. Ambry will also send you a small test kit that you give to the lab who is drawing the blood (maybe the lab at the childrens hospital?).

I also had three of my kids sweat tested as newborns. All of the sweat tests were valid. However, some newborns will not sweat enough, so the testing doesn't work.

I know how stressful it is to wait for the results. Hopefully you can get some answers soon.
Sharon, mom of Sophia, 9 and Jack, 7 both with cf, Grant, 21 months and Paige, 6 weeks both without cf

 

[sdelorenzo]

Congratulations on your baby boy! I just had a baby girl who is 6 weeks. It took a week to get her blood test back. It should be simple for you to do as well. Call Ambry Genetics at 1-949-900-5500. Talk to them about which testing you will need done (type of genes you and your husband carry). Then you print out the paperwork from their web site and get the pediatrician to sign the paperwork. Ambry will also send you a small test kit that you give to the lab who is drawing the blood (maybe the lab at the childrens hospital?).

I also had three of my kids sweat tested as newborns. All of the sweat tests were valid. However, some newborns will not sweat enough, so the testing doesn't work.

I know how stressful it is to wait for the results. Hopefully you can get some answers soon.
Sharon, mom of Sophia, 9 and Jack, 7 both with cf, Grant, 21 months and Paige, 6 weeks both without cf

 

[sdelorenzo]

Congratulations on your baby boy! I just had a baby girl who is 6 weeks. It took a week to get her blood test back. It should be simple for you to do as well. Call Ambry Genetics at 1-949-900-5500. Talk to them about which testing you will need done (type of genes you and your husband carry). Then you print out the paperwork from their web site and get the pediatrician to sign the paperwork. Ambry will also send you a small test kit that you give to the lab who is drawing the blood (maybe the lab at the childrens hospital?).
<br />
<br />I also had three of my kids sweat tested as newborns. All of the sweat tests were valid. However, some newborns will not sweat enough, so the testing doesn't work.
<br />
<br />I know how stressful it is to wait for the results. Hopefully you can get some answers soon.
<br />Sharon, mom of Sophia, 9 and Jack, 7 both with cf, Grant, 21 months and Paige, 6 weeks both without cf
<br />