Another CF Mutation Found In Our Family

Buckeye

New member
They won't have to do a full panel just to find the Delta 508 one though. That is one of the most common, if not most common ones so that is picked up on just the basic panel. Also if Ambry knows what mutations they are looking for they can just test for that one mutation I believe so you wouldn't have to do full panel tests on everyone.
 

Buckeye

New member
They won't have to do a full panel just to find the Delta 508 one though. That is one of the most common, if not most common ones so that is picked up on just the basic panel. Also if Ambry knows what mutations they are looking for they can just test for that one mutation I believe so you wouldn't have to do full panel tests on everyone.
 

Buckeye

New member
They won't have to do a full panel just to find the Delta 508 one though. That is one of the most common, if not most common ones so that is picked up on just the basic panel. Also if Ambry knows what mutations they are looking for they can just test for that one mutation I believe so you wouldn't have to do full panel tests on everyone.
 

Buckeye

New member
They won't have to do a full panel just to find the Delta 508 one though. That is one of the most common, if not most common ones so that is picked up on just the basic panel. Also if Ambry knows what mutations they are looking for they can just test for that one mutation I believe so you wouldn't have to do full panel tests on everyone.
 

Buckeye

New member
They won't have to do a full panel just to find the Delta 508 one though. That is one of the most common, if not most common ones so that is picked up on just the basic panel. Also if Ambry knows what mutations they are looking for they can just test for that one mutation I believe so you wouldn't have to do full panel tests on everyone.
 

holmfamily1992

New member
We just got word from our insurance company that they wont do the blood test first on the other kids. They all have to start with sweat test. So now we have to put all the kids in the car and drive them 3 hours for a 30 min test. The biggest problem now is finding the time. June is so packed full of Basketball camps and Volleyball camps its unbelievable. July is our only option but finding 2 days together is going to be tough. My 2nd oldest son is on varsity this year and alot is expected of him. His coach will understand but he enjoys every bit of basketball. Not to mention football. Weight training starts in July, 3 days week. And then the season starts in August. This is going to be interesting.

Either way the docs are going to end up ordering genetic testing because we have to identify carriers also.

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 

holmfamily1992

New member
We just got word from our insurance company that they wont do the blood test first on the other kids. They all have to start with sweat test. So now we have to put all the kids in the car and drive them 3 hours for a 30 min test. The biggest problem now is finding the time. June is so packed full of Basketball camps and Volleyball camps its unbelievable. July is our only option but finding 2 days together is going to be tough. My 2nd oldest son is on varsity this year and alot is expected of him. His coach will understand but he enjoys every bit of basketball. Not to mention football. Weight training starts in July, 3 days week. And then the season starts in August. This is going to be interesting.

Either way the docs are going to end up ordering genetic testing because we have to identify carriers also.

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 

holmfamily1992

New member
We just got word from our insurance company that they wont do the blood test first on the other kids. They all have to start with sweat test. So now we have to put all the kids in the car and drive them 3 hours for a 30 min test. The biggest problem now is finding the time. June is so packed full of Basketball camps and Volleyball camps its unbelievable. July is our only option but finding 2 days together is going to be tough. My 2nd oldest son is on varsity this year and alot is expected of him. His coach will understand but he enjoys every bit of basketball. Not to mention football. Weight training starts in July, 3 days week. And then the season starts in August. This is going to be interesting.

Either way the docs are going to end up ordering genetic testing because we have to identify carriers also.

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 

holmfamily1992

New member
We just got word from our insurance company that they wont do the blood test first on the other kids. They all have to start with sweat test. So now we have to put all the kids in the car and drive them 3 hours for a 30 min test. The biggest problem now is finding the time. June is so packed full of Basketball camps and Volleyball camps its unbelievable. July is our only option but finding 2 days together is going to be tough. My 2nd oldest son is on varsity this year and alot is expected of him. His coach will understand but he enjoys every bit of basketball. Not to mention football. Weight training starts in July, 3 days week. And then the season starts in August. This is going to be interesting.

Either way the docs are going to end up ordering genetic testing because we have to identify carriers also.

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 

holmfamily1992

New member
We just got word from our insurance company that they wont do the blood test first on the other kids. They all have to start with sweat test. So now we have to put all the kids in the car and drive them 3 hours for a 30 min test. The biggest problem now is finding the time. June is so packed full of Basketball camps and Volleyball camps its unbelievable. July is our only option but finding 2 days together is going to be tough. My 2nd oldest son is on varsity this year and alot is expected of him. His coach will understand but he enjoys every bit of basketball. Not to mention football. Weight training starts in July, 3 days week. And then the season starts in August. This is going to be interesting.
<br />
<br />Either way the docs are going to end up ordering genetic testing because we have to identify carriers also.
<br />
<br />Tina
<br />
<br /><img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 

Momtana

New member
gee, Tina, sounds like you are getting a lot of information that it confusing. The basic panel should show Df508 if it exists - it is a common mutation. My first genetic test showed Df508 - we had to do a full panel to find the 1336K mutation. Genetic testing is more accurate than sweat tests - I'm surprised your insurance company is going the sweat test route - maybe because it is less expensive ????
Steve, from Ambry, is a resource on this site - perhaps you want to ask questions directly to him.
 

Momtana

New member
gee, Tina, sounds like you are getting a lot of information that it confusing. The basic panel should show Df508 if it exists - it is a common mutation. My first genetic test showed Df508 - we had to do a full panel to find the 1336K mutation. Genetic testing is more accurate than sweat tests - I'm surprised your insurance company is going the sweat test route - maybe because it is less expensive ????
Steve, from Ambry, is a resource on this site - perhaps you want to ask questions directly to him.
 

Momtana

New member
gee, Tina, sounds like you are getting a lot of information that it confusing. The basic panel should show Df508 if it exists - it is a common mutation. My first genetic test showed Df508 - we had to do a full panel to find the 1336K mutation. Genetic testing is more accurate than sweat tests - I'm surprised your insurance company is going the sweat test route - maybe because it is less expensive ????
Steve, from Ambry, is a resource on this site - perhaps you want to ask questions directly to him.
 

Momtana

New member
gee, Tina, sounds like you are getting a lot of information that it confusing. The basic panel should show Df508 if it exists - it is a common mutation. My first genetic test showed Df508 - we had to do a full panel to find the 1336K mutation. Genetic testing is more accurate than sweat tests - I'm surprised your insurance company is going the sweat test route - maybe because it is less expensive ????
Steve, from Ambry, is a resource on this site - perhaps you want to ask questions directly to him.
 

Momtana

New member
gee, Tina, sounds like you are getting a lot of information that it confusing. The basic panel should show Df508 if it exists - it is a common mutation. My first genetic test showed Df508 - we had to do a full panel to find the 1336K mutation. Genetic testing is more accurate than sweat tests - I'm surprised your insurance company is going the sweat test route - maybe because it is less expensive ????
<br />Steve, from Ambry, is a resource on this site - perhaps you want to ask questions directly to him.
 

holmfamily1992

New member
I think its absolutly stupid that insurance companies can dictate what kind of testing can be done and when the testing can be performed.

The biggest problem I have right now is its June 19th and our clinic still hasnt set up the appointments for the sweat test on the other kids. We have a routine appoint for Dylan on July 1st and I am going to raise holy hell when I am there. My husband will probably crawl under a chair because I am not very happy. I call and leave messages and dont receive a return call. We have made the decision to switch but we have to get all the testing done first so we dont have to start from the begining.

Dylans last appointment was on April 24 and that is when all the testing for the other kids was suppose to happen.

Frustrated,
Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 

holmfamily1992

New member
I think its absolutly stupid that insurance companies can dictate what kind of testing can be done and when the testing can be performed.

The biggest problem I have right now is its June 19th and our clinic still hasnt set up the appointments for the sweat test on the other kids. We have a routine appoint for Dylan on July 1st and I am going to raise holy hell when I am there. My husband will probably crawl under a chair because I am not very happy. I call and leave messages and dont receive a return call. We have made the decision to switch but we have to get all the testing done first so we dont have to start from the begining.

Dylans last appointment was on April 24 and that is when all the testing for the other kids was suppose to happen.

Frustrated,
Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 

holmfamily1992

New member
I think its absolutly stupid that insurance companies can dictate what kind of testing can be done and when the testing can be performed.

The biggest problem I have right now is its June 19th and our clinic still hasnt set up the appointments for the sweat test on the other kids. We have a routine appoint for Dylan on July 1st and I am going to raise holy hell when I am there. My husband will probably crawl under a chair because I am not very happy. I call and leave messages and dont receive a return call. We have made the decision to switch but we have to get all the testing done first so we dont have to start from the begining.

Dylans last appointment was on April 24 and that is when all the testing for the other kids was suppose to happen.

Frustrated,
Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 

holmfamily1992

New member
I think its absolutly stupid that insurance companies can dictate what kind of testing can be done and when the testing can be performed.

The biggest problem I have right now is its June 19th and our clinic still hasnt set up the appointments for the sweat test on the other kids. We have a routine appoint for Dylan on July 1st and I am going to raise holy hell when I am there. My husband will probably crawl under a chair because I am not very happy. I call and leave messages and dont receive a return call. We have made the decision to switch but we have to get all the testing done first so we dont have to start from the begining.

Dylans last appointment was on April 24 and that is when all the testing for the other kids was suppose to happen.

Frustrated,
Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 

holmfamily1992

New member
I think its absolutly stupid that insurance companies can dictate what kind of testing can be done and when the testing can be performed.
<br />
<br />The biggest problem I have right now is its June 19th and our clinic still hasnt set up the appointments for the sweat test on the other kids. We have a routine appoint for Dylan on July 1st and I am going to raise holy hell when I am there. My husband will probably crawl under a chair because I am not very happy. I call and leave messages and dont receive a return call. We have made the decision to switch but we have to get all the testing done first so we dont have to start from the begining.
<br />
<br />Dylans last appointment was on April 24 and that is when all the testing for the other kids was suppose to happen.
<br />
<br />Frustrated,
<br />Tina
<br />
<br /><img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 
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