Good luck, but don't despair. Even if mutations are found the symptoms vary greatly from person to person. I was diagnosed at 43 (a few months ago) by genetic testing at Ambry. My sweat tests were 'normal'. Insurance paid for the genetic test in order to 'rule out' CF, so the results surprised us all. I have 3 CF mutations - 2 on one chromosome, 1 on the other. I'm glad to finally know the root cause of the mild symptoms I've had since I was a kid. It sure explains a lot! I always figured I just had a weaker immune system than my 2 younger brothers as I tended to get sick more, come to find out given my relatively good health (never been on IV antibiotics) and late DX my immune system has really been GREAT all these years! <img src="i/expressions/face-icon-small-blush.gif" border="0">) ~Juliet
Newborn Screening - Repost
- Thread starter TampaDad
- Start date
Good luck, but don't despair. Even if mutations are found the symptoms vary greatly from person to person. I was diagnosed at 43 (a few months ago) by genetic testing at Ambry. My sweat tests were 'normal'. Insurance paid for the genetic test in order to 'rule out' CF, so the results surprised us all. I have 3 CF mutations - 2 on one chromosome, 1 on the other. I'm glad to finally know the root cause of the mild symptoms I've had since I was a kid. It sure explains a lot! I always figured I just had a weaker immune system than my 2 younger brothers as I tended to get sick more, come to find out given my relatively good health (never been on IV antibiotics) and late DX my immune system has really been GREAT all these years! <img src="i/expressions/face-icon-small-blush.gif" border="0">) ~Juliet
Good luck, but don't despair. Even if mutations are found the symptoms vary greatly from person to person. I was diagnosed at 43 (a few months ago) by genetic testing at Ambry. My sweat tests were 'normal'. Insurance paid for the genetic test in order to 'rule out' CF, so the results surprised us all. I have 3 CF mutations - 2 on one chromosome, 1 on the other. I'm glad to finally know the root cause of the mild symptoms I've had since I was a kid. It sure explains a lot! I always figured I just had a weaker immune system than my 2 younger brothers as I tended to get sick more, come to find out given my relatively good health (never been on IV antibiotics) and late DX my immune system has really been GREAT all these years! <img src="i/expressions/face-icon-small-blush.gif" border="0">) ~Juliet
Good luck, but don't despair. Even if mutations are found the symptoms vary greatly from person to person. I was diagnosed at 43 (a few months ago) by genetic testing at Ambry. My sweat tests were 'normal'. Insurance paid for the genetic test in order to 'rule out' CF, so the results surprised us all. I have 3 CF mutations - 2 on one chromosome, 1 on the other. I'm glad to finally know the root cause of the mild symptoms I've had since I was a kid. It sure explains a lot! I always figured I just had a weaker immune system than my 2 younger brothers as I tended to get sick more, come to find out given my relatively good health (never been on IV antibiotics) and late DX my immune system has really been GREAT all these years! <img src="i/expressions/face-icon-small-blush.gif" border="0">) ~Juliet
Good luck, but don't despair. Even if mutations are found the symptoms vary greatly from person to person. I was diagnosed at 43 (a few months ago) by genetic testing at Ambry. My sweat tests were 'normal'. Insurance paid for the genetic test in order to 'rule out' CF, so the results surprised us all. I have 3 CF mutations - 2 on one chromosome, 1 on the other. I'm glad to finally know the root cause of the mild symptoms I've had since I was a kid. It sure explains a lot! I always figured I just had a weaker immune system than my 2 younger brothers as I tended to get sick more, come to find out given my relatively good health (never been on IV antibiotics) and late DX my immune system has really been GREAT all these years! <img src="i/expressions/face-icon-small-blush.gif" border="0">) ~Juliet
TampaDad,
Welcome to the boards... we all hope you do not have to remain here for long
It would be nice if you could get full genetic testing, with no more mutations found and a low low sweat test number and of course no symptoms...if all of that were to happen I'd say you are most likely dealing with a kid who is a carrier only. Unfortunately there is no really good way to answer your "odds" questions... either he has only the Delta F508 only or he may have any one of the other 1561 known genes...the Delta f508 is the only gene that happens with much frequency and is known as "the most common" one, however aside from 2-3 others, the rest happen without any notable "regularity, for frequency"... ask Steve about it... the notion that there is gene testing for the most common CF genes is a myth.
Is you son showing any symptoms at all? Again, a lack of symptoms does not necessarily rule out the possibility (my son didn't show any symptoms until age 21, my daughter age 5) But the presents of symptoms now certainly would have a bearing on how I would respond to your questions -- I'm assuming since you didn't mention any symptoms, he does not have any.
So to respond to your questions:
1) Sweat tests can be very conclusive if you get a good high number, problem is so many people test in the high normal to borderline area, but still 2 genes are found -- so be prepared that you may get a good clear answer after the sweat test or you may just be left wondering ...it just depends on the number. Also, like someone else has mentioned... on a two week old, you might not get enough sweat collected for an accurate test.
2)Yes, and no... yes, the short and most applicable answer is... 2 genes are needed for a diagnosis and if only 1 gene is found they are said to be a carrier only....there are complications/exceptions when a person is displaying CF symptoms but only one (or sometimes no) CF gene is found... these folks still can sometimes get diagnosed if they are showing classic signs of CF ...it is assumed that their 2nd gene has not yet been identified.
3)Yes, you need to be looking for ALL CF genes... ask for the Ambry Amplified complete testing.
4) This is the answer I discussed already -- but I want to emphasize again... aside from the Delta F508 and possibly 2 others, there are no other "common genes"...everyone has one or two of the remaining 1561 genes !!! It is not at all rare to have one or two of the other genes.
5) Yes, I would assume the DeltaF508 is coming from you.
6) absolutely! Keep testing until you are sure they have tested for every gene that they currently have identified.
6A) Absolutely NOT ! Keep going with genetic testing -- do not stop at sweat testing only. Do you have insurance coverage? Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
6B)You will need the cooperation of a doctor -- they have to be the one to order the complete Ambry testing....keep moving to another doctor until you get what you are asking for.
6C)Yes, eventually all siblings should be tested..you might want to wait until you have some results in your hands for the newborn first... that would make asking for testing a whole lot easier if you have confirmed genetic results.
I know it is easier said than done, but do try not to worry about it too much... even those without any OCD problems have a difficult time during the waiting period...but just remember that worrying about it is not going to change the results of the test...if he has two CF genes, they were there upon conception. Enjoy your baby as you did with your other children...Yes, it is important to educate yourself about the possibility of CF (and we know it is beneficial to be able to express your fears and questions here -- it helps everyone), but at this point you still only know for certain he has carrier status, and that is not harmful.
Best wishes ! Please keep us posted.
Welcome to the boards... we all hope you do not have to remain here for long
It would be nice if you could get full genetic testing, with no more mutations found and a low low sweat test number and of course no symptoms...if all of that were to happen I'd say you are most likely dealing with a kid who is a carrier only. Unfortunately there is no really good way to answer your "odds" questions... either he has only the Delta F508 only or he may have any one of the other 1561 known genes...the Delta f508 is the only gene that happens with much frequency and is known as "the most common" one, however aside from 2-3 others, the rest happen without any notable "regularity, for frequency"... ask Steve about it... the notion that there is gene testing for the most common CF genes is a myth. Is you son showing any symptoms at all? Again, a lack of symptoms does not necessarily rule out the possibility (my son didn't show any symptoms until age 21, my daughter age 5) But the presents of symptoms now certainly would have a bearing on how I would respond to your questions -- I'm assuming since you didn't mention any symptoms, he does not have any.
So to respond to your questions:
1) Sweat tests can be very conclusive if you get a good high number, problem is so many people test in the high normal to borderline area, but still 2 genes are found -- so be prepared that you may get a good clear answer after the sweat test or you may just be left wondering ...it just depends on the number. Also, like someone else has mentioned... on a two week old, you might not get enough sweat collected for an accurate test.
2)Yes, and no... yes, the short and most applicable answer is... 2 genes are needed for a diagnosis and if only 1 gene is found they are said to be a carrier only....there are complications/exceptions when a person is displaying CF symptoms but only one (or sometimes no) CF gene is found... these folks still can sometimes get diagnosed if they are showing classic signs of CF ...it is assumed that their 2nd gene has not yet been identified.
3)Yes, you need to be looking for ALL CF genes... ask for the Ambry Amplified complete testing.
4) This is the answer I discussed already -- but I want to emphasize again... aside from the Delta F508 and possibly 2 others, there are no other "common genes"...everyone has one or two of the remaining 1561 genes !!! It is not at all rare to have one or two of the other genes.
5) Yes, I would assume the DeltaF508 is coming from you.
6) absolutely! Keep testing until you are sure they have tested for every gene that they currently have identified.
6A) Absolutely NOT ! Keep going with genetic testing -- do not stop at sweat testing only. Do you have insurance coverage? Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
6B)You will need the cooperation of a doctor -- they have to be the one to order the complete Ambry testing....keep moving to another doctor until you get what you are asking for.
6C)Yes, eventually all siblings should be tested..you might want to wait until you have some results in your hands for the newborn first... that would make asking for testing a whole lot easier if you have confirmed genetic results.
I know it is easier said than done, but do try not to worry about it too much... even those without any OCD problems have a difficult time during the waiting period...but just remember that worrying about it is not going to change the results of the test...if he has two CF genes, they were there upon conception. Enjoy your baby as you did with your other children...Yes, it is important to educate yourself about the possibility of CF (and we know it is beneficial to be able to express your fears and questions here -- it helps everyone), but at this point you still only know for certain he has carrier status, and that is not harmful.
Best wishes ! Please keep us posted.
TampaDad,
Welcome to the boards... we all hope you do not have to remain here for long It would be nice if you could get full genetic testing, with no more mutations found and a low low sweat test number and of course no symptoms...if all of that were to happen I'd say you are most likely dealing with a kid who is a carrier only. Unfortunately there is no really good way to answer your "odds" questions... either he has only the Delta F508 only or he may have any one of the other 1561 known genes...the Delta f508 is the only gene that happens with much frequency and is known as "the most common" one, however aside from 2-3 others, the rest happen without any notable "regularity, for frequency"... ask Steve about it... the notion that there is gene testing for the most common CF genes is a myth.
Is you son showing any symptoms at all? Again, a lack of symptoms does not necessarily rule out the possibility (my son didn't show any symptoms until age 21, my daughter age 5) But the presents of symptoms now certainly would have a bearing on how I would respond to your questions -- I'm assuming since you didn't mention any symptoms, he does not have any.
So to respond to your questions:
1) Sweat tests can be very conclusive if you get a good high number, problem is so many people test in the high normal to borderline area, but still 2 genes are found -- so be prepared that you may get a good clear answer after the sweat test or you may just be left wondering ...it just depends on the number. Also, like someone else has mentioned... on a two week old, you might not get enough sweat collected for an accurate test.
2)Yes, and no... yes, the short and most applicable answer is... 2 genes are needed for a diagnosis and if only 1 gene is found they are said to be a carrier only....there are complications/exceptions when a person is displaying CF symptoms but only one (or sometimes no) CF gene is found... these folks still can sometimes get diagnosed if they are showing classic signs of CF ...it is assumed that their 2nd gene has not yet been identified.
3)Yes, you need to be looking for ALL CF genes... ask for the Ambry Amplified complete testing.
4) This is the answer I discussed already -- but I want to emphasize again... aside from the Delta F508 and possibly 2 others, there are no other "common genes"...everyone has one or two of the remaining 1561 genes !!! It is not at all rare to have one or two of the other genes.
5) Yes, I would assume the DeltaF508 is coming from you.
6) absolutely! Keep testing until you are sure they have tested for every gene that they currently have identified.
6A) Absolutely NOT ! Keep going with genetic testing -- do not stop at sweat testing only. Do you have insurance coverage? Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
6B)You will need the cooperation of a doctor -- they have to be the one to order the complete Ambry testing....keep moving to another doctor until you get what you are asking for.
6C)Yes, eventually all siblings should be tested..you might want to wait until you have some results in your hands for the newborn first... that would make asking for testing a whole lot easier if you have confirmed genetic results.
I know it is easier said than done, but do try not to worry about it too much... even those without any OCD problems have a difficult time during the waiting period...but just remember that worrying about it is not going to change the results of the test...if he has two CF genes, they were there upon conception. Enjoy your baby as you did with your other children...Yes, it is important to educate yourself about the possibility of CF (and we know it is beneficial to be able to express your fears and questions here -- it helps everyone), but at this point you still only know for certain he has carrier status, and that is not harmful.
Best wishes ! Please keep us posted.
Welcome to the boards... we all hope you do not have to remain here for long
It would be nice if you could get full genetic testing, with no more mutations found and a low low sweat test number and of course no symptoms...if all of that were to happen I'd say you are most likely dealing with a kid who is a carrier only. Unfortunately there is no really good way to answer your "odds" questions... either he has only the Delta F508 only or he may have any one of the other 1561 known genes...the Delta f508 is the only gene that happens with much frequency and is known as "the most common" one, however aside from 2-3 others, the rest happen without any notable "regularity, for frequency"... ask Steve about it... the notion that there is gene testing for the most common CF genes is a myth. Is you son showing any symptoms at all? Again, a lack of symptoms does not necessarily rule out the possibility (my son didn't show any symptoms until age 21, my daughter age 5) But the presents of symptoms now certainly would have a bearing on how I would respond to your questions -- I'm assuming since you didn't mention any symptoms, he does not have any.
So to respond to your questions:
1) Sweat tests can be very conclusive if you get a good high number, problem is so many people test in the high normal to borderline area, but still 2 genes are found -- so be prepared that you may get a good clear answer after the sweat test or you may just be left wondering ...it just depends on the number. Also, like someone else has mentioned... on a two week old, you might not get enough sweat collected for an accurate test.
2)Yes, and no... yes, the short and most applicable answer is... 2 genes are needed for a diagnosis and if only 1 gene is found they are said to be a carrier only....there are complications/exceptions when a person is displaying CF symptoms but only one (or sometimes no) CF gene is found... these folks still can sometimes get diagnosed if they are showing classic signs of CF ...it is assumed that their 2nd gene has not yet been identified.
3)Yes, you need to be looking for ALL CF genes... ask for the Ambry Amplified complete testing.
4) This is the answer I discussed already -- but I want to emphasize again... aside from the Delta F508 and possibly 2 others, there are no other "common genes"...everyone has one or two of the remaining 1561 genes !!! It is not at all rare to have one or two of the other genes.
5) Yes, I would assume the DeltaF508 is coming from you.
6) absolutely! Keep testing until you are sure they have tested for every gene that they currently have identified.
6A) Absolutely NOT ! Keep going with genetic testing -- do not stop at sweat testing only. Do you have insurance coverage? Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
6B)You will need the cooperation of a doctor -- they have to be the one to order the complete Ambry testing....keep moving to another doctor until you get what you are asking for.
6C)Yes, eventually all siblings should be tested..you might want to wait until you have some results in your hands for the newborn first... that would make asking for testing a whole lot easier if you have confirmed genetic results.
I know it is easier said than done, but do try not to worry about it too much... even those without any OCD problems have a difficult time during the waiting period...but just remember that worrying about it is not going to change the results of the test...if he has two CF genes, they were there upon conception. Enjoy your baby as you did with your other children...Yes, it is important to educate yourself about the possibility of CF (and we know it is beneficial to be able to express your fears and questions here -- it helps everyone), but at this point you still only know for certain he has carrier status, and that is not harmful.
Best wishes ! Please keep us posted.
TampaDad,
Welcome to the boards... we all hope you do not have to remain here for long It would be nice if you could get full genetic testing, with no more mutations found and a low low sweat test number and of course no symptoms...if all of that were to happen I'd say you are most likely dealing with a kid who is a carrier only. Unfortunately there is no really good way to answer your "odds" questions... either he has only the Delta F508 only or he may have any one of the other 1561 known genes...the Delta f508 is the only gene that happens with much frequency and is known as "the most common" one, however aside from 2-3 others, the rest happen without any notable "regularity, for frequency"... ask Steve about it... the notion that there is gene testing for the most common CF genes is a myth.
Is you son showing any symptoms at all? Again, a lack of symptoms does not necessarily rule out the possibility (my son didn't show any symptoms until age 21, my daughter age 5) But the presents of symptoms now certainly would have a bearing on how I would respond to your questions -- I'm assuming since you didn't mention any symptoms, he does not have any.
So to respond to your questions:
1) Sweat tests can be very conclusive if you get a good high number, problem is so many people test in the high normal to borderline area, but still 2 genes are found -- so be prepared that you may get a good clear answer after the sweat test or you may just be left wondering ...it just depends on the number. Also, like someone else has mentioned... on a two week old, you might not get enough sweat collected for an accurate test.
2)Yes, and no... yes, the short and most applicable answer is... 2 genes are needed for a diagnosis and if only 1 gene is found they are said to be a carrier only....there are complications/exceptions when a person is displaying CF symptoms but only one (or sometimes no) CF gene is found... these folks still can sometimes get diagnosed if they are showing classic signs of CF ...it is assumed that their 2nd gene has not yet been identified.
3)Yes, you need to be looking for ALL CF genes... ask for the Ambry Amplified complete testing.
4) This is the answer I discussed already -- but I want to emphasize again... aside from the Delta F508 and possibly 2 others, there are no other "common genes"...everyone has one or two of the remaining 1561 genes !!! It is not at all rare to have one or two of the other genes.
5) Yes, I would assume the DeltaF508 is coming from you.
6) absolutely! Keep testing until you are sure they have tested for every gene that they currently have identified.
6A) Absolutely NOT ! Keep going with genetic testing -- do not stop at sweat testing only. Do you have insurance coverage? Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
6B)You will need the cooperation of a doctor -- they have to be the one to order the complete Ambry testing....keep moving to another doctor until you get what you are asking for.
6C)Yes, eventually all siblings should be tested..you might want to wait until you have some results in your hands for the newborn first... that would make asking for testing a whole lot easier if you have confirmed genetic results.
I know it is easier said than done, but do try not to worry about it too much... even those without any OCD problems have a difficult time during the waiting period...but just remember that worrying about it is not going to change the results of the test...if he has two CF genes, they were there upon conception. Enjoy your baby as you did with your other children...Yes, it is important to educate yourself about the possibility of CF (and we know it is beneficial to be able to express your fears and questions here -- it helps everyone), but at this point you still only know for certain he has carrier status, and that is not harmful.
Best wishes ! Please keep us posted.
Welcome to the boards... we all hope you do not have to remain here for long
It would be nice if you could get full genetic testing, with no more mutations found and a low low sweat test number and of course no symptoms...if all of that were to happen I'd say you are most likely dealing with a kid who is a carrier only. Unfortunately there is no really good way to answer your "odds" questions... either he has only the Delta F508 only or he may have any one of the other 1561 known genes...the Delta f508 is the only gene that happens with much frequency and is known as "the most common" one, however aside from 2-3 others, the rest happen without any notable "regularity, for frequency"... ask Steve about it... the notion that there is gene testing for the most common CF genes is a myth. Is you son showing any symptoms at all? Again, a lack of symptoms does not necessarily rule out the possibility (my son didn't show any symptoms until age 21, my daughter age 5) But the presents of symptoms now certainly would have a bearing on how I would respond to your questions -- I'm assuming since you didn't mention any symptoms, he does not have any.
So to respond to your questions:
1) Sweat tests can be very conclusive if you get a good high number, problem is so many people test in the high normal to borderline area, but still 2 genes are found -- so be prepared that you may get a good clear answer after the sweat test or you may just be left wondering ...it just depends on the number. Also, like someone else has mentioned... on a two week old, you might not get enough sweat collected for an accurate test.
2)Yes, and no... yes, the short and most applicable answer is... 2 genes are needed for a diagnosis and if only 1 gene is found they are said to be a carrier only....there are complications/exceptions when a person is displaying CF symptoms but only one (or sometimes no) CF gene is found... these folks still can sometimes get diagnosed if they are showing classic signs of CF ...it is assumed that their 2nd gene has not yet been identified.
3)Yes, you need to be looking for ALL CF genes... ask for the Ambry Amplified complete testing.
4) This is the answer I discussed already -- but I want to emphasize again... aside from the Delta F508 and possibly 2 others, there are no other "common genes"...everyone has one or two of the remaining 1561 genes !!! It is not at all rare to have one or two of the other genes.
5) Yes, I would assume the DeltaF508 is coming from you.
6) absolutely! Keep testing until you are sure they have tested for every gene that they currently have identified.
6A) Absolutely NOT ! Keep going with genetic testing -- do not stop at sweat testing only. Do you have insurance coverage? Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
6B)You will need the cooperation of a doctor -- they have to be the one to order the complete Ambry testing....keep moving to another doctor until you get what you are asking for.
6C)Yes, eventually all siblings should be tested..you might want to wait until you have some results in your hands for the newborn first... that would make asking for testing a whole lot easier if you have confirmed genetic results.
I know it is easier said than done, but do try not to worry about it too much... even those without any OCD problems have a difficult time during the waiting period...but just remember that worrying about it is not going to change the results of the test...if he has two CF genes, they were there upon conception. Enjoy your baby as you did with your other children...Yes, it is important to educate yourself about the possibility of CF (and we know it is beneficial to be able to express your fears and questions here -- it helps everyone), but at this point you still only know for certain he has carrier status, and that is not harmful.
Best wishes ! Please keep us posted.
TampaDad,
Welcome to the boards... we all hope you do not have to remain here for long It would be nice if you could get full genetic testing, with no more mutations found and a low low sweat test number and of course no symptoms...if all of that were to happen I'd say you are most likely dealing with a kid who is a carrier only. Unfortunately there is no really good way to answer your "odds" questions... either he has only the Delta F508 only or he may have any one of the other 1561 known genes...the Delta f508 is the only gene that happens with much frequency and is known as "the most common" one, however aside from 2-3 others, the rest happen without any notable "regularity, for frequency"... ask Steve about it... the notion that there is gene testing for the most common CF genes is a myth.
Is you son showing any symptoms at all? Again, a lack of symptoms does not necessarily rule out the possibility (my son didn't show any symptoms until age 21, my daughter age 5) But the presents of symptoms now certainly would have a bearing on how I would respond to your questions -- I'm assuming since you didn't mention any symptoms, he does not have any.
So to respond to your questions:
1) Sweat tests can be very conclusive if you get a good high number, problem is so many people test in the high normal to borderline area, but still 2 genes are found -- so be prepared that you may get a good clear answer after the sweat test or you may just be left wondering ...it just depends on the number. Also, like someone else has mentioned... on a two week old, you might not get enough sweat collected for an accurate test.
2)Yes, and no... yes, the short and most applicable answer is... 2 genes are needed for a diagnosis and if only 1 gene is found they are said to be a carrier only....there are complications/exceptions when a person is displaying CF symptoms but only one (or sometimes no) CF gene is found... these folks still can sometimes get diagnosed if they are showing classic signs of CF ...it is assumed that their 2nd gene has not yet been identified.
3)Yes, you need to be looking for ALL CF genes... ask for the Ambry Amplified complete testing.
4) This is the answer I discussed already -- but I want to emphasize again... aside from the Delta F508 and possibly 2 others, there are no other "common genes"...everyone has one or two of the remaining 1561 genes !!! It is not at all rare to have one or two of the other genes.
5) Yes, I would assume the DeltaF508 is coming from you.
6) absolutely! Keep testing until you are sure they have tested for every gene that they currently have identified.
6A) Absolutely NOT ! Keep going with genetic testing -- do not stop at sweat testing only. Do you have insurance coverage? Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
6B)You will need the cooperation of a doctor -- they have to be the one to order the complete Ambry testing....keep moving to another doctor until you get what you are asking for.
6C)Yes, eventually all siblings should be tested..you might want to wait until you have some results in your hands for the newborn first... that would make asking for testing a whole lot easier if you have confirmed genetic results.
I know it is easier said than done, but do try not to worry about it too much... even those without any OCD problems have a difficult time during the waiting period...but just remember that worrying about it is not going to change the results of the test...if he has two CF genes, they were there upon conception. Enjoy your baby as you did with your other children...Yes, it is important to educate yourself about the possibility of CF (and we know it is beneficial to be able to express your fears and questions here -- it helps everyone), but at this point you still only know for certain he has carrier status, and that is not harmful.
Best wishes ! Please keep us posted.
Welcome to the boards... we all hope you do not have to remain here for long
It would be nice if you could get full genetic testing, with no more mutations found and a low low sweat test number and of course no symptoms...if all of that were to happen I'd say you are most likely dealing with a kid who is a carrier only. Unfortunately there is no really good way to answer your "odds" questions... either he has only the Delta F508 only or he may have any one of the other 1561 known genes...the Delta f508 is the only gene that happens with much frequency and is known as "the most common" one, however aside from 2-3 others, the rest happen without any notable "regularity, for frequency"... ask Steve about it... the notion that there is gene testing for the most common CF genes is a myth. Is you son showing any symptoms at all? Again, a lack of symptoms does not necessarily rule out the possibility (my son didn't show any symptoms until age 21, my daughter age 5) But the presents of symptoms now certainly would have a bearing on how I would respond to your questions -- I'm assuming since you didn't mention any symptoms, he does not have any.
So to respond to your questions:
1) Sweat tests can be very conclusive if you get a good high number, problem is so many people test in the high normal to borderline area, but still 2 genes are found -- so be prepared that you may get a good clear answer after the sweat test or you may just be left wondering ...it just depends on the number. Also, like someone else has mentioned... on a two week old, you might not get enough sweat collected for an accurate test.
2)Yes, and no... yes, the short and most applicable answer is... 2 genes are needed for a diagnosis and if only 1 gene is found they are said to be a carrier only....there are complications/exceptions when a person is displaying CF symptoms but only one (or sometimes no) CF gene is found... these folks still can sometimes get diagnosed if they are showing classic signs of CF ...it is assumed that their 2nd gene has not yet been identified.
3)Yes, you need to be looking for ALL CF genes... ask for the Ambry Amplified complete testing.
4) This is the answer I discussed already -- but I want to emphasize again... aside from the Delta F508 and possibly 2 others, there are no other "common genes"...everyone has one or two of the remaining 1561 genes !!! It is not at all rare to have one or two of the other genes.
5) Yes, I would assume the DeltaF508 is coming from you.
6) absolutely! Keep testing until you are sure they have tested for every gene that they currently have identified.
6A) Absolutely NOT ! Keep going with genetic testing -- do not stop at sweat testing only. Do you have insurance coverage? Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
6B)You will need the cooperation of a doctor -- they have to be the one to order the complete Ambry testing....keep moving to another doctor until you get what you are asking for.
6C)Yes, eventually all siblings should be tested..you might want to wait until you have some results in your hands for the newborn first... that would make asking for testing a whole lot easier if you have confirmed genetic results.
I know it is easier said than done, but do try not to worry about it too much... even those without any OCD problems have a difficult time during the waiting period...but just remember that worrying about it is not going to change the results of the test...if he has two CF genes, they were there upon conception. Enjoy your baby as you did with your other children...Yes, it is important to educate yourself about the possibility of CF (and we know it is beneficial to be able to express your fears and questions here -- it helps everyone), but at this point you still only know for certain he has carrier status, and that is not harmful.
Best wishes ! Please keep us posted.
TampaDad,
<br />
<br />Welcome to the boards... we all hope you do not have to remain here for long It would be nice if you could get full genetic testing, with no more mutations found and a low low sweat test number and of course no symptoms...if all of that were to happen I'd say you are most likely dealing with a kid who is a carrier only. Unfortunately there is no really good way to answer your "odds" questions... either he has only the Delta F508 only or he may have any one of the other 1561 known genes...the Delta f508 is the only gene that happens with much frequency and is known as "the most common" one, however aside from 2-3 others, the rest happen without any notable "regularity, for frequency"... ask Steve about it... the notion that there is gene testing for the most common CF genes is a myth.
<br />
<br />Is you son showing any symptoms at all? Again, a lack of symptoms does not necessarily rule out the possibility (my son didn't show any symptoms until age 21, my daughter age 5) But the presents of symptoms now certainly would have a bearing on how I would respond to your questions -- I'm assuming since you didn't mention any symptoms, he does not have any.
<br />So to respond to your questions:
<br />1) Sweat tests can be very conclusive if you get a good high number, problem is so many people test in the high normal to borderline area, but still 2 genes are found -- so be prepared that you may get a good clear answer after the sweat test or you may just be left wondering ...it just depends on the number. Also, like someone else has mentioned... on a two week old, you might not get enough sweat collected for an accurate test.
<br />2)Yes, and no... yes, the short and most applicable answer is... 2 genes are needed for a diagnosis and if only 1 gene is found they are said to be a carrier only....there are complications/exceptions when a person is displaying CF symptoms but only one (or sometimes no) CF gene is found... these folks still can sometimes get diagnosed if they are showing classic signs of CF ...it is assumed that their 2nd gene has not yet been identified.
<br />3)Yes, you need to be looking for ALL CF genes... ask for the Ambry Amplified complete testing.
<br />4) This is the answer I discussed already -- but I want to emphasize again... aside from the Delta F508 and possibly 2 others, there are no other "common genes"...everyone has one or two of the remaining 1561 genes !!! It is not at all rare to have one or two of the other genes.
<br />5) Yes, I would assume the DeltaF508 is coming from you.
<br />6) absolutely! Keep testing until you are sure they have tested for every gene that they currently have identified.
<br />6A) Absolutely NOT ! Keep going with genetic testing -- do not stop at sweat testing only. Do you have insurance coverage? Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
<br />6B)You will need the cooperation of a doctor -- they have to be the one to order the complete Ambry testing....keep moving to another doctor until you get what you are asking for.
<br />6C)Yes, eventually all siblings should be tested..you might want to wait until you have some results in your hands for the newborn first... that would make asking for testing a whole lot easier if you have confirmed genetic results.
<br />
<br />I know it is easier said than done, but do try not to worry about it too much... even those without any OCD problems have a difficult time during the waiting period...but just remember that worrying about it is not going to change the results of the test...if he has two CF genes, they were there upon conception. Enjoy your baby as you did with your other children...Yes, it is important to educate yourself about the possibility of CF (and we know it is beneficial to be able to express your fears and questions here -- it helps everyone), but at this point you still only know for certain he has carrier status, and that is not harmful.
<br />
<br />Best wishes ! Please keep us posted.
<br />
<br />Welcome to the boards... we all hope you do not have to remain here for long
It would be nice if you could get full genetic testing, with no more mutations found and a low low sweat test number and of course no symptoms...if all of that were to happen I'd say you are most likely dealing with a kid who is a carrier only. Unfortunately there is no really good way to answer your "odds" questions... either he has only the Delta F508 only or he may have any one of the other 1561 known genes...the Delta f508 is the only gene that happens with much frequency and is known as "the most common" one, however aside from 2-3 others, the rest happen without any notable "regularity, for frequency"... ask Steve about it... the notion that there is gene testing for the most common CF genes is a myth. <br />
<br />Is you son showing any symptoms at all? Again, a lack of symptoms does not necessarily rule out the possibility (my son didn't show any symptoms until age 21, my daughter age 5) But the presents of symptoms now certainly would have a bearing on how I would respond to your questions -- I'm assuming since you didn't mention any symptoms, he does not have any.
<br />So to respond to your questions:
<br />1) Sweat tests can be very conclusive if you get a good high number, problem is so many people test in the high normal to borderline area, but still 2 genes are found -- so be prepared that you may get a good clear answer after the sweat test or you may just be left wondering ...it just depends on the number. Also, like someone else has mentioned... on a two week old, you might not get enough sweat collected for an accurate test.
<br />2)Yes, and no... yes, the short and most applicable answer is... 2 genes are needed for a diagnosis and if only 1 gene is found they are said to be a carrier only....there are complications/exceptions when a person is displaying CF symptoms but only one (or sometimes no) CF gene is found... these folks still can sometimes get diagnosed if they are showing classic signs of CF ...it is assumed that their 2nd gene has not yet been identified.
<br />3)Yes, you need to be looking for ALL CF genes... ask for the Ambry Amplified complete testing.
<br />4) This is the answer I discussed already -- but I want to emphasize again... aside from the Delta F508 and possibly 2 others, there are no other "common genes"...everyone has one or two of the remaining 1561 genes !!! It is not at all rare to have one or two of the other genes.
<br />5) Yes, I would assume the DeltaF508 is coming from you.
<br />6) absolutely! Keep testing until you are sure they have tested for every gene that they currently have identified.
<br />6A) Absolutely NOT ! Keep going with genetic testing -- do not stop at sweat testing only. Do you have insurance coverage? Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
<br />6B)You will need the cooperation of a doctor -- they have to be the one to order the complete Ambry testing....keep moving to another doctor until you get what you are asking for.
<br />6C)Yes, eventually all siblings should be tested..you might want to wait until you have some results in your hands for the newborn first... that would make asking for testing a whole lot easier if you have confirmed genetic results.
<br />
<br />I know it is easier said than done, but do try not to worry about it too much... even those without any OCD problems have a difficult time during the waiting period...but just remember that worrying about it is not going to change the results of the test...if he has two CF genes, they were there upon conception. Enjoy your baby as you did with your other children...Yes, it is important to educate yourself about the possibility of CF (and we know it is beneficial to be able to express your fears and questions here -- it helps everyone), but at this point you still only know for certain he has carrier status, and that is not harmful.
<br />
<br />Best wishes ! Please keep us posted.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>
Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
.</end quote></div>
I talked to ambry today and they said that the ambry amplified is $3,300 without insurance. My insurance is going to cover 80% of that. Also I just got a statement for my daughters sweat test and without insurance that is $472. I am going to post this on a new post because I'm sure more people want to know the cost of these test.
Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
.</end quote></div>
I talked to ambry today and they said that the ambry amplified is $3,300 without insurance. My insurance is going to cover 80% of that. Also I just got a statement for my daughters sweat test and without insurance that is $472. I am going to post this on a new post because I'm sure more people want to know the cost of these test.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>
Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
.</end quote></div>
I talked to ambry today and they said that the ambry amplified is $3,300 without insurance. My insurance is going to cover 80% of that. Also I just got a statement for my daughters sweat test and without insurance that is $472. I am going to post this on a new post because I'm sure more people want to know the cost of these test.
Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
.</end quote></div>
I talked to ambry today and they said that the ambry amplified is $3,300 without insurance. My insurance is going to cover 80% of that. Also I just got a statement for my daughters sweat test and without insurance that is $472. I am going to post this on a new post because I'm sure more people want to know the cost of these test.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>
Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
.</end quote></div>
I talked to ambry today and they said that the ambry amplified is $3,300 without insurance. My insurance is going to cover 80% of that. Also I just got a statement for my daughters sweat test and without insurance that is $472. I am going to post this on a new post because I'm sure more people want to know the cost of these test.
Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
.</end quote></div>
I talked to ambry today and they said that the ambry amplified is $3,300 without insurance. My insurance is going to cover 80% of that. Also I just got a statement for my daughters sweat test and without insurance that is $472. I am going to post this on a new post because I'm sure more people want to know the cost of these test.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>
Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
.</end quote>
I talked to ambry today and they said that the ambry amplified is $3,300 without insurance. My insurance is going to cover 80% of that. Also I just got a statement for my daughters sweat test and without insurance that is $472. I am going to post this on a new post because I'm sure more people want to know the cost of these test.
Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
.</end quote>
I talked to ambry today and they said that the ambry amplified is $3,300 without insurance. My insurance is going to cover 80% of that. Also I just got a statement for my daughters sweat test and without insurance that is $472. I am going to post this on a new post because I'm sure more people want to know the cost of these test.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>
<br />
<br /> Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
<br />
<br />.</end quote>
<br />
<br />
<br />I talked to ambry today and they said that the ambry amplified is $3,300 without insurance. My insurance is going to cover 80% of that. Also I just got a statement for my daughters sweat test and without insurance that is $472. I am going to post this on a new post because I'm sure more people want to know the cost of these test.
<br />
<br /> Sweat tests are relatively cheap.. full genetic testing will not be... when my kids were tested I thought I saw a figure of about $1800.00 each.... you will for sure want to run that through insurance if possible.
<br />
<br />.</end quote>
<br />
<br />
<br />I talked to ambry today and they said that the ambry amplified is $3,300 without insurance. My insurance is going to cover 80% of that. Also I just got a statement for my daughters sweat test and without insurance that is $472. I am going to post this on a new post because I'm sure more people want to know the cost of these test.
T
tcb121
Guest
TampaDad,
What was your sons IRT level from the newborn screening? I found some research on elevated IRT values with F508 and how that correlates to % of real dx of CF. Here is a link to the document:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
For IRT levels below 140 the odds are near 0% or 2 in 1404 newborns tested in this range.
For IRT levels in the 220 to 260 range the odds are 10.7% or 13/122
For IRT levels above 300 the odds go to 24%.
You get the point. More detail is found in the link. Hope this information helps.
Thanks.
What was your sons IRT level from the newborn screening? I found some research on elevated IRT values with F508 and how that correlates to % of real dx of CF. Here is a link to the document:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
For IRT levels below 140 the odds are near 0% or 2 in 1404 newborns tested in this range.
For IRT levels in the 220 to 260 range the odds are 10.7% or 13/122
For IRT levels above 300 the odds go to 24%.
You get the point. More detail is found in the link. Hope this information helps.
Thanks.
T
tcb121
Guest
TampaDad,
What was your sons IRT level from the newborn screening? I found some research on elevated IRT values with F508 and how that correlates to % of real dx of CF. Here is a link to the document:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
For IRT levels below 140 the odds are near 0% or 2 in 1404 newborns tested in this range.
For IRT levels in the 220 to 260 range the odds are 10.7% or 13/122
For IRT levels above 300 the odds go to 24%.
You get the point. More detail is found in the link. Hope this information helps.
Thanks.
What was your sons IRT level from the newborn screening? I found some research on elevated IRT values with F508 and how that correlates to % of real dx of CF. Here is a link to the document:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
For IRT levels below 140 the odds are near 0% or 2 in 1404 newborns tested in this range.
For IRT levels in the 220 to 260 range the odds are 10.7% or 13/122
For IRT levels above 300 the odds go to 24%.
You get the point. More detail is found in the link. Hope this information helps.
Thanks.
T
tcb121
Guest
TampaDad,
What was your sons IRT level from the newborn screening? I found some research on elevated IRT values with F508 and how that correlates to % of real dx of CF. Here is a link to the document:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
For IRT levels below 140 the odds are near 0% or 2 in 1404 newborns tested in this range.
For IRT levels in the 220 to 260 range the odds are 10.7% or 13/122
For IRT levels above 300 the odds go to 24%.
You get the point. More detail is found in the link. Hope this information helps.
Thanks.
What was your sons IRT level from the newborn screening? I found some research on elevated IRT values with F508 and how that correlates to % of real dx of CF. Here is a link to the document:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
For IRT levels below 140 the odds are near 0% or 2 in 1404 newborns tested in this range.
For IRT levels in the 220 to 260 range the odds are 10.7% or 13/122
For IRT levels above 300 the odds go to 24%.
You get the point. More detail is found in the link. Hope this information helps.
Thanks.
T
tcb121
Guest
TampaDad,
What was your sons IRT level from the newborn screening? I found some research on elevated IRT values with F508 and how that correlates to % of real dx of CF. Here is a link to the document:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
For IRT levels below 140 the odds are near 0% or 2 in 1404 newborns tested in this range.
For IRT levels in the 220 to 260 range the odds are 10.7% or 13/122
For IRT levels above 300 the odds go to 24%.
You get the point. More detail is found in the link. Hope this information helps.
Thanks.
What was your sons IRT level from the newborn screening? I found some research on elevated IRT values with F508 and how that correlates to % of real dx of CF. Here is a link to the document:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
For IRT levels below 140 the odds are near 0% or 2 in 1404 newborns tested in this range.
For IRT levels in the 220 to 260 range the odds are 10.7% or 13/122
For IRT levels above 300 the odds go to 24%.
You get the point. More detail is found in the link. Hope this information helps.
Thanks.
T
tcb121
Guest
TampaDad,
<br />
<br />What was your sons IRT level from the newborn screening? I found some research on elevated IRT values with F508 and how that correlates to % of real dx of CF. Here is a link to the document:
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a><br />
<br />For IRT levels below 140 the odds are near 0% or 2 in 1404 newborns tested in this range.
<br />
<br />For IRT levels in the 220 to 260 range the odds are 10.7% or 13/122
<br />
<br />For IRT levels above 300 the odds go to 24%.
<br />
<br />You get the point. More detail is found in the link. Hope this information helps.
<br />
<br />
<br />Thanks.
<br />
<br />What was your sons IRT level from the newborn screening? I found some research on elevated IRT values with F508 and how that correlates to % of real dx of CF. Here is a link to the document:
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a><br />
<br />For IRT levels below 140 the odds are near 0% or 2 in 1404 newborns tested in this range.
<br />
<br />For IRT levels in the 220 to 260 range the odds are 10.7% or 13/122
<br />
<br />For IRT levels above 300 the odds go to 24%.
<br />
<br />You get the point. More detail is found in the link. Hope this information helps.
<br />
<br />
<br />Thanks.