Accuracy of test

[Jenybeen]

Hello there. My son, Isaac, had testing done through you company a month or two ago. My doctor said you tested for 16 or 17 mutations, I think...and they all came back negative. I'm confused because I am reading that you test for up to 100, now why would my doctor request to check for so few? My son has failed to sweat for the sweat test 4 times, and I don't know where to turn next to find out if he has CF or not. He doesn't seem to have chronic lung problems, he coughs a lot, but nothing serious. He has had chronic diarrhea all his life though. His doctor keeps saying we need to rule out CF, even after the Ambry testing came back Negative. A week ago, Isaac's GI doc perscribed Creon, and it seems to be helping a lot...should this worry me? Does the fact that the meds are working point to a CF diagnosis a little more? Any help or advice you could give me would be greatly appreciated. Thank you!

Jennifer Phillips

 

[Jenybeen]

Hello there. My son, Isaac, had testing done through you company a month or two ago. My doctor said you tested for 16 or 17 mutations, I think...and they all came back negative. I'm confused because I am reading that you test for up to 100, now why would my doctor request to check for so few? My son has failed to sweat for the sweat test 4 times, and I don't know where to turn next to find out if he has CF or not. He doesn't seem to have chronic lung problems, he coughs a lot, but nothing serious. He has had chronic diarrhea all his life though. His doctor keeps saying we need to rule out CF, even after the Ambry testing came back Negative. A week ago, Isaac's GI doc perscribed Creon, and it seems to be helping a lot...should this worry me? Does the fact that the meds are working point to a CF diagnosis a little more? Any help or advice you could give me would be greatly appreciated. Thank you!

Jennifer Phillips

 

[Jenybeen]

Hello there. My son, Isaac, had testing done through you company a month or two ago. My doctor said you tested for 16 or 17 mutations, I think...and they all came back negative. I'm confused because I am reading that you test for up to 100, now why would my doctor request to check for so few? My son has failed to sweat for the sweat test 4 times, and I don't know where to turn next to find out if he has CF or not. He doesn't seem to have chronic lung problems, he coughs a lot, but nothing serious. He has had chronic diarrhea all his life though. His doctor keeps saying we need to rule out CF, even after the Ambry testing came back Negative. A week ago, Isaac's GI doc perscribed Creon, and it seems to be helping a lot...should this worry me? Does the fact that the meds are working point to a CF diagnosis a little more? Any help or advice you could give me would be greatly appreciated. Thank you!

Jennifer Phillips

 

[Jenybeen]

Hello there. My son, Isaac, had testing done through you company a month or two ago. My doctor said you tested for 16 or 17 mutations, I think...and they all came back negative. I'm confused because I am reading that you test for up to 100, now why would my doctor request to check for so few? My son has failed to sweat for the sweat test 4 times, and I don't know where to turn next to find out if he has CF or not. He doesn't seem to have chronic lung problems, he coughs a lot, but nothing serious. He has had chronic diarrhea all his life though. His doctor keeps saying we need to rule out CF, even after the Ambry testing came back Negative. A week ago, Isaac's GI doc perscribed Creon, and it seems to be helping a lot...should this worry me? Does the fact that the meds are working point to a CF diagnosis a little more? Any help or advice you could give me would be greatly appreciated. Thank you!

Jennifer Phillips

 

[Jenybeen]

Hello there. My son, Isaac, had testing done through you company a month or two ago. My doctor said you tested for 16 or 17 mutations, I think...and they all came back negative. I'm confused because I am reading that you test for up to 100, now why would my doctor request to check for so few? My son has failed to sweat for the sweat test 4 times, and I don't know where to turn next to find out if he has CF or not. He doesn't seem to have chronic lung problems, he coughs a lot, but nothing serious. He has had chronic diarrhea all his life though. His doctor keeps saying we need to rule out CF, even after the Ambry testing came back Negative. A week ago, Isaac's GI doc perscribed Creon, and it seems to be helping a lot...should this worry me? Does the fact that the meds are working point to a CF diagnosis a little more? Any help or advice you could give me would be greatly appreciated. Thank you!

Jennifer Phillips

 

[Jenybeen]

Hello there. My son, Isaac, had testing done through you company a month or two ago. My doctor said you tested for 16 or 17 mutations, I think...and they all came back negative. I'm confused because I am reading that you test for up to 100, now why would my doctor request to check for so few? My son has failed to sweat for the sweat test 4 times, and I don't know where to turn next to find out if he has CF or not. He doesn't seem to have chronic lung problems, he coughs a lot, but nothing serious. He has had chronic diarrhea all his life though. His doctor keeps saying we need to rule out CF, even after the Ambry testing came back Negative. A week ago, Isaac's GI doc perscribed Creon, and it seems to be helping a lot...should this worry me? Does the fact that the meds are working point to a CF diagnosis a little more? Any help or advice you could give me would be greatly appreciated. Thank you!

Jennifer Phillips

 

[momja]

Jennifer-Did your Dr. state that they were doing the Ambry test? My understanding (from this board) is that Ambry tests for 1500 mutations.....

I just want to give my support as I'm currently awaiting my sons genetic test results after 3 failed sweats tests. I understand your frustrations and need for answers.

I'm not familiar with any of the CF meds but it seems if it's helping your son then it's for the best. I'm unaware if Creon is used for anything but CF.

How old is your son?

 

[momja]

Jennifer-Did your Dr. state that they were doing the Ambry test? My understanding (from this board) is that Ambry tests for 1500 mutations.....

I just want to give my support as I'm currently awaiting my sons genetic test results after 3 failed sweats tests. I understand your frustrations and need for answers.

I'm not familiar with any of the CF meds but it seems if it's helping your son then it's for the best. I'm unaware if Creon is used for anything but CF.

How old is your son?

 

[momja]

Jennifer-Did your Dr. state that they were doing the Ambry test? My understanding (from this board) is that Ambry tests for 1500 mutations.....

I just want to give my support as I'm currently awaiting my sons genetic test results after 3 failed sweats tests. I understand your frustrations and need for answers.

I'm not familiar with any of the CF meds but it seems if it's helping your son then it's for the best. I'm unaware if Creon is used for anything but CF.

How old is your son?

 

[momja]

Jennifer-Did your Dr. state that they were doing the Ambry test? My understanding (from this board) is that Ambry tests for 1500 mutations.....

I just want to give my support as I'm currently awaiting my sons genetic test results after 3 failed sweats tests. I understand your frustrations and need for answers.

I'm not familiar with any of the CF meds but it seems if it's helping your son then it's for the best. I'm unaware if Creon is used for anything but CF.

How old is your son?

 

[momja]

Jennifer-Did your Dr. state that they were doing the Ambry test? My understanding (from this board) is that Ambry tests for 1500 mutations.....

I just want to give my support as I'm currently awaiting my sons genetic test results after 3 failed sweats tests. I understand your frustrations and need for answers.

I'm not familiar with any of the CF meds but it seems if it's helping your son then it's for the best. I'm unaware if Creon is used for anything but CF.

How old is your son?

 

[momja]

Jennifer-Did your Dr. state that they were doing the Ambry test? My understanding (from this board) is that Ambry tests for 1500 mutations.....

I just want to give my support as I'm currently awaiting my sons genetic test results after 3 failed sweats tests. I understand your frustrations and need for answers.

I'm not familiar with any of the CF meds but it seems if it's helping your son then it's for the best. I'm unaware if Creon is used for anything but CF.

How old is your son?

 

[Jenybeen]

Thank you...I meant to post this under the thread where the Ambry genetics guy is answering...I'm new at this though!

Yes, the testing was done through Ambry. Isaac is 5 years old. This whole situation is really testing my emotional strength though, I couldn't go to sleep until 2am last night!

 

[Jenybeen]

Thank you...I meant to post this under the thread where the Ambry genetics guy is answering...I'm new at this though!

Yes, the testing was done through Ambry. Isaac is 5 years old. This whole situation is really testing my emotional strength though, I couldn't go to sleep until 2am last night!

 

[Jenybeen]

Thank you...I meant to post this under the thread where the Ambry genetics guy is answering...I'm new at this though!

Yes, the testing was done through Ambry. Isaac is 5 years old. This whole situation is really testing my emotional strength though, I couldn't go to sleep until 2am last night!

 

[Jenybeen]

Thank you...I meant to post this under the thread where the Ambry genetics guy is answering...I'm new at this though!

Yes, the testing was done through Ambry. Isaac is 5 years old. This whole situation is really testing my emotional strength though, I couldn't go to sleep until 2am last night!

 

[Jenybeen]

Thank you...I meant to post this under the thread where the Ambry genetics guy is answering...I'm new at this though!

Yes, the testing was done through Ambry. Isaac is 5 years old. This whole situation is really testing my emotional strength though, I couldn't go to sleep until 2am last night!

 

[Jenybeen]

Thank you...I meant to post this under the thread where the Ambry genetics guy is answering...I'm new at this though!

Yes, the testing was done through Ambry. Isaac is 5 years old. This whole situation is really testing my emotional strength though, I couldn't go to sleep until 2am last night!

 

[okok]

It is my understanding that ambry does not test for a "panel of mutations." In other words, they will test for a single mutation only or they will sequence the CFTR to detect any possible mutations. I could be wrong though. I'm pretty sure that they do not offer genetic testing where they test for only 16 mutaions.

 

[okok]

It is my understanding that ambry does not test for a "panel of mutations." In other words, they will test for a single mutation only or they will sequence the CFTR to detect any possible mutations. I could be wrong though. I'm pretty sure that they do not offer genetic testing where they test for only 16 mutaions.