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now I'm being told...........
- Thread starter kpc
- Start date
I think what your doctor probably means is that with science nothing is 100%. They are finding new mutations so anything is possible. Even with the extended panel there is always that small % that someone is a carrier of an undiscovered gene. Usually this is "realized" when a person has all the symptoms of CF & are an identified carrier of at least one gene, but the other isnt identified.
I think what your doctor probably means is that with science nothing is 100%. They are finding new mutations so anything is possible. Even with the extended panel there is always that small % that someone is a carrier of an undiscovered gene. Usually this is "realized" when a person has all the symptoms of CF & are an identified carrier of at least one gene, but the other isnt identified.
I think what your doctor probably means is that with science nothing is 100%. They are finding new mutations so anything is possible. Even with the extended panel there is always that small % that someone is a carrier of an undiscovered gene. Usually this is "realized" when a person has all the symptoms of CF & are an identified carrier of at least one gene, but the other isnt identified.
You might want to post a specific question in the Family section under the 1st thread that says Weclome to Ambry Genetics. A rep from the genetics testing company answers those questions and could probably help you. From what I understand and my understanding is limited, the carrier testing that they would do in your prenatal visits would only have tested for the more common mutations that cause CF. The same with the newborn testing that some states do. Those tests are not designed to totally rule out the possibility of your child having CF.
You might want to post a specific question in the Family section under the 1st thread that says Weclome to Ambry Genetics. A rep from the genetics testing company answers those questions and could probably help you. From what I understand and my understanding is limited, the carrier testing that they would do in your prenatal visits would only have tested for the more common mutations that cause CF. The same with the newborn testing that some states do. Those tests are not designed to totally rule out the possibility of your child having CF.
You might want to post a specific question in the Family section under the 1st thread that says Weclome to Ambry Genetics. A rep from the genetics testing company answers those questions and could probably help you. From what I understand and my understanding is limited, the carrier testing that they would do in your prenatal visits would only have tested for the more common mutations that cause CF. The same with the newborn testing that some states do. Those tests are not designed to totally rule out the possibility of your child having CF.
Katie,
My son was diagnosed this past September. His genetic testing, and this is with "Quest" full mutation pane was negative, meaning the mutated gene has yet to be identified by scientif methods (hasn't been found yet). However, his Nasal Differential Potential was positive as well as a sweat test that is based on a different channel used in the typical sweat test. As confusing as all the back and forth of no/yes he has CF, coming up with a diagnosis has brought comfort in a strange way and because he is now getting the right treatment his lung fuctions are up.
I will be taking the Nasal potential test in January to see if I have CF. Wouldn't suprise me iat all if I do and it no longer scares me.
My son was diagnosed this past September. His genetic testing, and this is with "Quest" full mutation pane was negative, meaning the mutated gene has yet to be identified by scientif methods (hasn't been found yet). However, his Nasal Differential Potential was positive as well as a sweat test that is based on a different channel used in the typical sweat test. As confusing as all the back and forth of no/yes he has CF, coming up with a diagnosis has brought comfort in a strange way and because he is now getting the right treatment his lung fuctions are up.
I will be taking the Nasal potential test in January to see if I have CF. Wouldn't suprise me iat all if I do and it no longer scares me.
Katie,
My son was diagnosed this past September. His genetic testing, and this is with "Quest" full mutation pane was negative, meaning the mutated gene has yet to be identified by scientif methods (hasn't been found yet). However, his Nasal Differential Potential was positive as well as a sweat test that is based on a different channel used in the typical sweat test. As confusing as all the back and forth of no/yes he has CF, coming up with a diagnosis has brought comfort in a strange way and because he is now getting the right treatment his lung fuctions are up.
I will be taking the Nasal potential test in January to see if I have CF. Wouldn't suprise me iat all if I do and it no longer scares me.
My son was diagnosed this past September. His genetic testing, and this is with "Quest" full mutation pane was negative, meaning the mutated gene has yet to be identified by scientif methods (hasn't been found yet). However, his Nasal Differential Potential was positive as well as a sweat test that is based on a different channel used in the typical sweat test. As confusing as all the back and forth of no/yes he has CF, coming up with a diagnosis has brought comfort in a strange way and because he is now getting the right treatment his lung fuctions are up.
I will be taking the Nasal potential test in January to see if I have CF. Wouldn't suprise me iat all if I do and it no longer scares me.
Katie,
My son was diagnosed this past September. His genetic testing, and this is with "Quest" full mutation pane was negative, meaning the mutated gene has yet to be identified by scientif methods (hasn't been found yet). However, his Nasal Differential Potential was positive as well as a sweat test that is based on a different channel used in the typical sweat test. As confusing as all the back and forth of no/yes he has CF, coming up with a diagnosis has brought comfort in a strange way and because he is now getting the right treatment his lung fuctions are up.
I will be taking the Nasal potential test in January to see if I have CF. Wouldn't suprise me iat all if I do and it no longer scares me.
My son was diagnosed this past September. His genetic testing, and this is with "Quest" full mutation pane was negative, meaning the mutated gene has yet to be identified by scientif methods (hasn't been found yet). However, his Nasal Differential Potential was positive as well as a sweat test that is based on a different channel used in the typical sweat test. As confusing as all the back and forth of no/yes he has CF, coming up with a diagnosis has brought comfort in a strange way and because he is now getting the right treatment his lung fuctions are up.
I will be taking the Nasal potential test in January to see if I have CF. Wouldn't suprise me iat all if I do and it no longer scares me.
hikingmomde
New member
Hi Katie. I know a lot of people have responded--just wanted to let you know that I also tested negative during my prenatal screening because the screening was the standard panel and I have a mutation that shows up in the expanded panel (not one of the 99% most common mutations).
I agree with bmombtoo that the diagnosis of my daughter too came with some sense of comfort that she is now receiving the treatments that she needs to stay healthy.
Best of luck with the testing!
I agree with bmombtoo that the diagnosis of my daughter too came with some sense of comfort that she is now receiving the treatments that she needs to stay healthy.
Best of luck with the testing!
hikingmomde
New member
Hi Katie. I know a lot of people have responded--just wanted to let you know that I also tested negative during my prenatal screening because the screening was the standard panel and I have a mutation that shows up in the expanded panel (not one of the 99% most common mutations).
I agree with bmombtoo that the diagnosis of my daughter too came with some sense of comfort that she is now receiving the treatments that she needs to stay healthy.
Best of luck with the testing!
I agree with bmombtoo that the diagnosis of my daughter too came with some sense of comfort that she is now receiving the treatments that she needs to stay healthy.
Best of luck with the testing!
hikingmomde
New member
Hi Katie. I know a lot of people have responded--just wanted to let you know that I also tested negative during my prenatal screening because the screening was the standard panel and I have a mutation that shows up in the expanded panel (not one of the 99% most common mutations).
I agree with bmombtoo that the diagnosis of my daughter too came with some sense of comfort that she is now receiving the treatments that she needs to stay healthy.
Best of luck with the testing!
I agree with bmombtoo that the diagnosis of my daughter too came with some sense of comfort that she is now receiving the treatments that she needs to stay healthy.
Best of luck with the testing!
SnobunnyAK
New member
When I was pregnant with my daughter I wanted to either test the amniotic fluid to see if my baby was going to be born with CF or to test her father for the gene. I was told that both were possible, but that the blood test could only account for like 80 or so of many many more possible genes of CF. I opted out on both accounts. I didn't want to test and think that she was in the clear if it was possible that she wouldn't be anyways. Maybe advances are further now than then, but I do know that they can't do blood tests for all of them. I was advised that the sodium chloride testing would be a much better way to find out if she had it, and more acurate as well. Those 7 months between her being born and testing were hell, but it worked out and she's free and clear of the disease. Only a carrier of it.
SnobunnyAK
New member
When I was pregnant with my daughter I wanted to either test the amniotic fluid to see if my baby was going to be born with CF or to test her father for the gene. I was told that both were possible, but that the blood test could only account for like 80 or so of many many more possible genes of CF. I opted out on both accounts. I didn't want to test and think that she was in the clear if it was possible that she wouldn't be anyways. Maybe advances are further now than then, but I do know that they can't do blood tests for all of them. I was advised that the sodium chloride testing would be a much better way to find out if she had it, and more acurate as well. Those 7 months between her being born and testing were hell, but it worked out and she's free and clear of the disease. Only a carrier of it.