Gene Mutation Question

[Paige3]

Hi, I'm hoping someone can answer some questions regarding cf gene mutations. We learned a few months ago that youngest ds has 1 rare cf gene mutation, so we then decided to have older ds have a sweat test although he had one as a baby 15 years ago that we were told was negative. First sweat was positive, 60 something, so they did the double sweat test which were high borderline and the ambry amp. dna test which his brother had. We had appt. with the doctor and he said ds had one cf mutation and explained options for further testing to try to determine if ds has cf or not, but then said that a lot of people in this situation just treat symptoms and don't follow up with testing because it can cause problems with health and life insurance as well as with possible future employment. When the nurse was finishing up the appt. we asked for copy of ambry report and it turns out that ds has a different mutation than his little brother. Talked to doc. again and he said he would contact ambry genetics to ask questions and that they would probably be interested in results.

So does this mean that both ds probably don't have cf but what our ent doc. called a hybrid mutation that causes cf type symptoms? Wouldn't they have to have 2 mutations to actually have cf? Also does this mean that dh and I each have a rare cf gene mutation or possibly only one of us has 2 mutations? But if only one of us has 2 mutations that would mean that person has cf, correct?

Thanks for your help with these questions<img src="i/expressions/sun.gif" border="0">

 

[Paige3]

Hi, I'm hoping someone can answer some questions regarding cf gene mutations. We learned a few months ago that youngest ds has 1 rare cf gene mutation, so we then decided to have older ds have a sweat test although he had one as a baby 15 years ago that we were told was negative. First sweat was positive, 60 something, so they did the double sweat test which were high borderline and the ambry amp. dna test which his brother had. We had appt. with the doctor and he said ds had one cf mutation and explained options for further testing to try to determine if ds has cf or not, but then said that a lot of people in this situation just treat symptoms and don't follow up with testing because it can cause problems with health and life insurance as well as with possible future employment. When the nurse was finishing up the appt. we asked for copy of ambry report and it turns out that ds has a different mutation than his little brother. Talked to doc. again and he said he would contact ambry genetics to ask questions and that they would probably be interested in results.

So does this mean that both ds probably don't have cf but what our ent doc. called a hybrid mutation that causes cf type symptoms? Wouldn't they have to have 2 mutations to actually have cf? Also does this mean that dh and I each have a rare cf gene mutation or possibly only one of us has 2 mutations? But if only one of us has 2 mutations that would mean that person has cf, correct?

Thanks for your help with these questions<img src="i/expressions/sun.gif" border="0">

 

[Paige3]

Hi, I'm hoping someone can answer some questions regarding cf gene mutations. We learned a few months ago that youngest ds has 1 rare cf gene mutation, so we then decided to have older ds have a sweat test although he had one as a baby 15 years ago that we were told was negative. First sweat was positive, 60 something, so they did the double sweat test which were high borderline and the ambry amp. dna test which his brother had. We had appt. with the doctor and he said ds had one cf mutation and explained options for further testing to try to determine if ds has cf or not, but then said that a lot of people in this situation just treat symptoms and don't follow up with testing because it can cause problems with health and life insurance as well as with possible future employment. When the nurse was finishing up the appt. we asked for copy of ambry report and it turns out that ds has a different mutation than his little brother. Talked to doc. again and he said he would contact ambry genetics to ask questions and that they would probably be interested in results.

So does this mean that both ds probably don't have cf but what our ent doc. called a hybrid mutation that causes cf type symptoms? Wouldn't they have to have 2 mutations to actually have cf? Also does this mean that dh and I each have a rare cf gene mutation or possibly only one of us has 2 mutations? But if only one of us has 2 mutations that would mean that person has cf, correct?

Thanks for your help with these questions<img src="i/expressions/sun.gif" border="0">

 

[Paige3]

Hi, I'm hoping someone can answer some questions regarding cf gene mutations. We learned a few months ago that youngest ds has 1 rare cf gene mutation, so we then decided to have older ds have a sweat test although he had one as a baby 15 years ago that we were told was negative. First sweat was positive, 60 something, so they did the double sweat test which were high borderline and the ambry amp. dna test which his brother had. We had appt. with the doctor and he said ds had one cf mutation and explained options for further testing to try to determine if ds has cf or not, but then said that a lot of people in this situation just treat symptoms and don't follow up with testing because it can cause problems with health and life insurance as well as with possible future employment. When the nurse was finishing up the appt. we asked for copy of ambry report and it turns out that ds has a different mutation than his little brother. Talked to doc. again and he said he would contact ambry genetics to ask questions and that they would probably be interested in results.

So does this mean that both ds probably don't have cf but what our ent doc. called a hybrid mutation that causes cf type symptoms? Wouldn't they have to have 2 mutations to actually have cf? Also does this mean that dh and I each have a rare cf gene mutation or possibly only one of us has 2 mutations? But if only one of us has 2 mutations that would mean that person has cf, correct?

Thanks for your help with these questions<img src="i/expressions/sun.gif" border="0">

 

[Paige3]

Hi, I'm hoping someone can answer some questions regarding cf gene mutations. We learned a few months ago that youngest ds has 1 rare cf gene mutation, so we then decided to have older ds have a sweat test although he had one as a baby 15 years ago that we were told was negative. First sweat was positive, 60 something, so they did the double sweat test which were high borderline and the ambry amp. dna test which his brother had. We had appt. with the doctor and he said ds had one cf mutation and explained options for further testing to try to determine if ds has cf or not, but then said that a lot of people in this situation just treat symptoms and don't follow up with testing because it can cause problems with health and life insurance as well as with possible future employment. When the nurse was finishing up the appt. we asked for copy of ambry report and it turns out that ds has a different mutation than his little brother. Talked to doc. again and he said he would contact ambry genetics to ask questions and that they would probably be interested in results.
<br />
<br />So does this mean that both ds probably don't have cf but what our ent doc. called a hybrid mutation that causes cf type symptoms? Wouldn't they have to have 2 mutations to actually have cf? Also does this mean that dh and I each have a rare cf gene mutation or possibly only one of us has 2 mutations? But if only one of us has 2 mutations that would mean that person has cf, correct?
<br />
<br />Thanks for your help with these questions<img src="i/expressions/sun.gif" border="0">

 

[Mommafirst]

I have absolutely no clue how to answer this. I'd suggest you copy and paste this into the Ambry thread at the top of this (families) forum. Steve is a geneticist with Ambry and will be much more capable of making sense of this. Good luck!!!

 

[Mommafirst]

I have absolutely no clue how to answer this. I'd suggest you copy and paste this into the Ambry thread at the top of this (families) forum. Steve is a geneticist with Ambry and will be much more capable of making sense of this. Good luck!!!

 

[Mommafirst]

I have absolutely no clue how to answer this. I'd suggest you copy and paste this into the Ambry thread at the top of this (families) forum. Steve is a geneticist with Ambry and will be much more capable of making sense of this. Good luck!!!

 

[Mommafirst]

I have absolutely no clue how to answer this. I'd suggest you copy and paste this into the Ambry thread at the top of this (families) forum. Steve is a geneticist with Ambry and will be much more capable of making sense of this. Good luck!!!

 

[Mommafirst]

I have absolutely no clue how to answer this. I'd suggest you copy and paste this into the Ambry thread at the top of this (families) forum. Steve is a geneticist with Ambry and will be much more capable of making sense of this. Good luck!!!

 

[just1more]

Basic Genetics:

1) it takes two mutations in the same person to 'have' CF. There are some with 2 rare mutations that are dx'd but don't have issues until late in life.

2) mutations have very little to do with predicting outcome. Two siblings with identical mutations can have drastically different symptoms and issues.

3) If each of your boys has a different mutation, then either you & your husband each are carriers (most likely) or one of you technically has a rare CF combination (see #1 above).

4) If by chance one of you two has both mutations, then your boys are carriers.

5) I would honestly consider posting in the Ambry post at the top of the 'family' forum. Steve with Ambry monitors it pretty well and could give you more details.

 

[just1more]

Basic Genetics:

1) it takes two mutations in the same person to 'have' CF. There are some with 2 rare mutations that are dx'd but don't have issues until late in life.

2) mutations have very little to do with predicting outcome. Two siblings with identical mutations can have drastically different symptoms and issues.

3) If each of your boys has a different mutation, then either you & your husband each are carriers (most likely) or one of you technically has a rare CF combination (see #1 above).

4) If by chance one of you two has both mutations, then your boys are carriers.

5) I would honestly consider posting in the Ambry post at the top of the 'family' forum. Steve with Ambry monitors it pretty well and could give you more details.

 

[just1more]

Basic Genetics:

1) it takes two mutations in the same person to 'have' CF. There are some with 2 rare mutations that are dx'd but don't have issues until late in life.

2) mutations have very little to do with predicting outcome. Two siblings with identical mutations can have drastically different symptoms and issues.

3) If each of your boys has a different mutation, then either you & your husband each are carriers (most likely) or one of you technically has a rare CF combination (see #1 above).

4) If by chance one of you two has both mutations, then your boys are carriers.

5) I would honestly consider posting in the Ambry post at the top of the 'family' forum. Steve with Ambry monitors it pretty well and could give you more details.

 

[just1more]

Basic Genetics:

1) it takes two mutations in the same person to 'have' CF. There are some with 2 rare mutations that are dx'd but don't have issues until late in life.

2) mutations have very little to do with predicting outcome. Two siblings with identical mutations can have drastically different symptoms and issues.

3) If each of your boys has a different mutation, then either you & your husband each are carriers (most likely) or one of you technically has a rare CF combination (see #1 above).

4) If by chance one of you two has both mutations, then your boys are carriers.

5) I would honestly consider posting in the Ambry post at the top of the 'family' forum. Steve with Ambry monitors it pretty well and could give you more details.

 

[just1more]

Basic Genetics:
<br />
<br />1) it takes two mutations in the same person to 'have' CF. There are some with 2 rare mutations that are dx'd but don't have issues until late in life.
<br />
<br />2) mutations have very little to do with predicting outcome. Two siblings with identical mutations can have drastically different symptoms and issues.
<br />
<br />3) If each of your boys has a different mutation, then either you & your husband each are carriers (most likely) or one of you technically has a rare CF combination (see #1 above).
<br />
<br />4) If by chance one of you two has both mutations, then your boys are carriers.
<br />
<br />5) I would honestly consider posting in the Ambry post at the top of the 'family' forum. Steve with Ambry monitors it pretty well and could give you more details.

 

[Paige3]

Thanks for your replies.

 

[Paige3]

Thanks for your replies.

 

[Paige3]

Thanks for your replies.

 

[Paige3]

Thanks for your replies.

 

[Paige3]

Thanks for your replies.