Ambry CF gene test - now the wait begins

[KKN]

Our 7.5 year old daughter was diagnosed with mild pancreatic insufficiency in January (is doing great on Creon) had sweat level tests of 38 and 41. We had the blood drawn yesterday for the CF gene test and so our wait begins. Our daughter is adopted and we have no birth family history. CF (at least diagnosed cases) are pretty rare in her birth country.

KKN

 

[KKN]

Our 7.5 year old daughter was diagnosed with mild pancreatic insufficiency in January (is doing great on Creon) had sweat level tests of 38 and 41. We had the blood drawn yesterday for the CF gene test and so our wait begins. Our daughter is adopted and we have no birth family history. CF (at least diagnosed cases) are pretty rare in her birth country.

KKN

 

[KKN]

Our 7.5 year old daughter was diagnosed with mild pancreatic insufficiency in January (is doing great on Creon) had sweat level tests of 38 and 41. We had the blood drawn yesterday for the CF gene test and so our wait begins. Our daughter is adopted and we have no birth family history. CF (at least diagnosed cases) are pretty rare in her birth country.
<br />
<br />KKN

 

[JORDYSMOM]

The waiting is hard. I'm glad that you have doctors who are working with you to find the answers you need to help your child.

Keep us posted.

Stacey

 

[JORDYSMOM]

The waiting is hard. I'm glad that you have doctors who are working with you to find the answers you need to help your child.

Keep us posted.

Stacey

 

[JORDYSMOM]

The waiting is hard. I'm glad that you have doctors who are working with you to find the answers you need to help your child.
<br />
<br />Keep us posted.
<br />
<br />Stacey

 

[mom2owen]

Hang in there, I know the wait is hard. I just told myself that the kid is still the kid with or without the test, it helped me. Let us know what you find out, I will be thinking of you.
Katy

 

[mom2owen]

Hang in there, I know the wait is hard. I just told myself that the kid is still the kid with or without the test, it helped me. Let us know what you find out, I will be thinking of you.
Katy

 

[mom2owen]

Hang in there, I know the wait is hard. I just told myself that the kid is still the kid with or without the test, it helped me. Let us know what you find out, I will be thinking of you.
<br />Katy

 

[KKN]

mom2owen (katy),

I read where you recently got your Ambry test results back for your son. Can you tell me how long it took to get your results? Did you get any information after the first "panel" was run?

Thanks for the support!

KKN

 

[KKN]

mom2owen (katy),

I read where you recently got your Ambry test results back for your son. Can you tell me how long it took to get your results? Did you get any information after the first "panel" was run?

Thanks for the support!

KKN

 

[KKN]

mom2owen (katy),
<br />
<br />I read where you recently got your Ambry test results back for your son. Can you tell me how long it took to get your results? Did you get any information after the first "panel" was run?
<br />
<br />Thanks for the support!
<br />
<br />KKN

 

[hmw]

Ambry does not do any kind of 'panel' testing (many people move on to Ambry testing after other lab panel testing does not come back showing both mutations.) If initial checking for DF508 does not come back for 2 copies, they start a systematic sequencing of the entire gene, followed by testing for deletions and duplications if 2 mutations are still not found. In our case, the entire process took just over 5wks. This included Christmas and New Years, though, which no doubt added to the time it took to come back.

 

[hmw]

Ambry does not do any kind of 'panel' testing (many people move on to Ambry testing after other lab panel testing does not come back showing both mutations.) If initial checking for DF508 does not come back for 2 copies, they start a systematic sequencing of the entire gene, followed by testing for deletions and duplications if 2 mutations are still not found. In our case, the entire process took just over 5wks. This included Christmas and New Years, though, which no doubt added to the time it took to come back.

 

[hmw]

Ambry does not do any kind of 'panel' testing (many people move on to Ambry testing after other lab panel testing does not come back showing both mutations.) If initial checking for DF508 does not come back for 2 copies, they start a systematic sequencing of the entire gene, followed by testing for deletions and duplications if 2 mutations are still not found. In our case, the entire process took just over 5wks. This included Christmas and New Years, though, which no doubt added to the time it took to come back.

 

[mom2owen]

We also waited five weeks. I think they do things as they go so if with the first round (gene mapping) shows mutations, they would not do the deletions/duplications so maybe that would make for less wait time. But, I hunkered down and did not count the days too much since I knew I had no control. I also had a feeling it would not shed more light on our ordeal so that might have made it easier for us. After three years of every test on the planet, I feel like we will never move out of the grey zone but because the treatment helps so much, I am comforted by that. I hope you have something more conclusive to hang on too. Let us know and feel free to PM me anytime you need a pep talk!

 

[mom2owen]

We also waited five weeks. I think they do things as they go so if with the first round (gene mapping) shows mutations, they would not do the deletions/duplications so maybe that would make for less wait time. But, I hunkered down and did not count the days too much since I knew I had no control. I also had a feeling it would not shed more light on our ordeal so that might have made it easier for us. After three years of every test on the planet, I feel like we will never move out of the grey zone but because the treatment helps so much, I am comforted by that. I hope you have something more conclusive to hang on too. Let us know and feel free to PM me anytime you need a pep talk!

 

[mom2owen]

We also waited five weeks. I think they do things as they go so if with the first round (gene mapping) shows mutations, they would not do the deletions/duplications so maybe that would make for less wait time. But, I hunkered down and did not count the days too much since I knew I had no control. I also had a feeling it would not shed more light on our ordeal so that might have made it easier for us. After three years of every test on the planet, I feel like we will never move out of the grey zone but because the treatment helps so much, I am comforted by that. I hope you have something more conclusive to hang on too. Let us know and feel free to PM me anytime you need a pep talk!

 

[KKN]

I posted an update last week and I am not sure where it went.

We received the results of our daughter's Ambry CF gene test last week and it was negative for mutations! I want to thank all of you who have responded to my questions and offered support. I appreciate it more that you know.

We still do not know what is causing her PI and if it is connected to her growth hormone deficiency. I am sure we have more tests in our future.

Best Wishes for Good Health!
KKN

 

[KKN]

I posted an update last week and I am not sure where it went.

We received the results of our daughter's Ambry CF gene test last week and it was negative for mutations! I want to thank all of you who have responded to my questions and offered support. I appreciate it more that you know.

We still do not know what is causing her PI and if it is connected to her growth hormone deficiency. I am sure we have more tests in our future.

Best Wishes for Good Health!
KKN