DNA test results - Good News

P

Paige3

New member
<img src="i/expressions/face-icon-small-happy.gif" border="0"> We got the DNA results from Ambry at our appt. The only mutation they found was p.L997F. The nurse said that ds does not have cf that the reason he had a positive sweat test and two high normals was prob. due to the mutation. The report they gave us from Ambry states the mutation ds had is sometimes associated with idopathic pancreatitis and could be contributing to the symptoms he has. We will need to discuss this with his ped. Not sure if it could cause sinus problems and polyps, will need to ask ent dr. when we have appt.

We have decided to have a sweat test for older ds since he had some cf type symptoms as a baby and young child.

But we are happy with the great news.

It is great to have a forum to get info and ask questions about all the testing.<img src="i/expressions/sun.gif" border="0">

If anyone has any info on this mutation I would appreciate hearing it.

Thanks!
 
P

Paige3

New member
<img src="i/expressions/face-icon-small-happy.gif" border="0"> We got the DNA results from Ambry at our appt. The only mutation they found was p.L997F. The nurse said that ds does not have cf that the reason he had a positive sweat test and two high normals was prob. due to the mutation. The report they gave us from Ambry states the mutation ds had is sometimes associated with idopathic pancreatitis and could be contributing to the symptoms he has. We will need to discuss this with his ped. Not sure if it could cause sinus problems and polyps, will need to ask ent dr. when we have appt.

We have decided to have a sweat test for older ds since he had some cf type symptoms as a baby and young child.

But we are happy with the great news.

It is great to have a forum to get info and ask questions about all the testing.<img src="i/expressions/sun.gif" border="0">

If anyone has any info on this mutation I would appreciate hearing it.

Thanks!
 
P

Paige3

New member
<img src="i/expressions/face-icon-small-happy.gif" border="0"> We got the DNA results from Ambry at our appt. The only mutation they found was p.L997F. The nurse said that ds does not have cf that the reason he had a positive sweat test and two high normals was prob. due to the mutation. The report they gave us from Ambry states the mutation ds had is sometimes associated with idopathic pancreatitis and could be contributing to the symptoms he has. We will need to discuss this with his ped. Not sure if it could cause sinus problems and polyps, will need to ask ent dr. when we have appt.

We have decided to have a sweat test for older ds since he had some cf type symptoms as a baby and young child.

But we are happy with the great news.

It is great to have a forum to get info and ask questions about all the testing.<img src="i/expressions/sun.gif" border="0">

If anyone has any info on this mutation I would appreciate hearing it.

Thanks!
 
P

Paige3

New member
<img src="i/expressions/face-icon-small-happy.gif" border="0"> We got the DNA results from Ambry at our appt. The only mutation they found was p.L997F. The nurse said that ds does not have cf that the reason he had a positive sweat test and two high normals was prob. due to the mutation. The report they gave us from Ambry states the mutation ds had is sometimes associated with idopathic pancreatitis and could be contributing to the symptoms he has. We will need to discuss this with his ped. Not sure if it could cause sinus problems and polyps, will need to ask ent dr. when we have appt.

We have decided to have a sweat test for older ds since he had some cf type symptoms as a baby and young child.

But we are happy with the great news.

It is great to have a forum to get info and ask questions about all the testing.<img src="i/expressions/sun.gif" border="0">

If anyone has any info on this mutation I would appreciate hearing it.

Thanks!
 
P

Paige3

New member
<img src="i/expressions/face-icon-small-happy.gif" border="0"> We got the DNA results from Ambry at our appt. The only mutation they found was p.L997F. The nurse said that ds does not have cf that the reason he had a positive sweat test and two high normals was prob. due to the mutation. The report they gave us from Ambry states the mutation ds had is sometimes associated with idopathic pancreatitis and could be contributing to the symptoms he has. We will need to discuss this with his ped. Not sure if it could cause sinus problems and polyps, will need to ask ent dr. when we have appt.
<br />
<br />We have decided to have a sweat test for older ds since he had some cf type symptoms as a baby and young child.
<br />
<br />But we are happy with the great news.
<br />
<br />It is great to have a forum to get info and ask questions about all the testing.<img src="i/expressions/sun.gif" border="0">
<br />
<br />If anyone has any info on this mutation I would appreciate hearing it.
<br />
<br />Thanks!
 
S

sdelorenzo

Guest
That is good news they only found one mutation. Hopefully that means your son does not have cf. But I don't think your son's case is an easy one to declare no cf/cf. Has he had nasal potential difference testing? I would think that test would help in getting a better picture of what is going on. Are your children going to a cf clinic? It is highly unusual for a pediatrician to have the knowledge about cf and ambry testing. You should only be speaking with a cf dr not nurse, pediatrician, etc. clinic about these test results. There are a number of cfers who only show one gene but are given the diagnosis of cf. Occasionally I have heard of some being diagnosed when no genes show up. The reason is there are a number of genes that are not yet identified. With a positive sweat test, two high normals, one gene identified, polyps, sinus problems, GI problems, sibling with cf symptoms = I think you could easily find cf drs who are wiling to give you a cf diagnosis. I don't like having to say all of that. The last thing I want for someone is to have a another child with cf. But worse than that is a child who has cf who is not getting the treatment they need. Hopefully my statements are wrong and I obviously don't have the degree or information to make bold statements about who has cf or who doesn't. I just don't think you have enough information yet to have a final answer.
Sharon, mom of Sophia, 7 and Jack, 5 both with cf, Grant, 5 month no cf
 
S

sdelorenzo

Guest
That is good news they only found one mutation. Hopefully that means your son does not have cf. But I don't think your son's case is an easy one to declare no cf/cf. Has he had nasal potential difference testing? I would think that test would help in getting a better picture of what is going on. Are your children going to a cf clinic? It is highly unusual for a pediatrician to have the knowledge about cf and ambry testing. You should only be speaking with a cf dr not nurse, pediatrician, etc. clinic about these test results. There are a number of cfers who only show one gene but are given the diagnosis of cf. Occasionally I have heard of some being diagnosed when no genes show up. The reason is there are a number of genes that are not yet identified. With a positive sweat test, two high normals, one gene identified, polyps, sinus problems, GI problems, sibling with cf symptoms = I think you could easily find cf drs who are wiling to give you a cf diagnosis. I don't like having to say all of that. The last thing I want for someone is to have a another child with cf. But worse than that is a child who has cf who is not getting the treatment they need. Hopefully my statements are wrong and I obviously don't have the degree or information to make bold statements about who has cf or who doesn't. I just don't think you have enough information yet to have a final answer.
Sharon, mom of Sophia, 7 and Jack, 5 both with cf, Grant, 5 month no cf
 
S

sdelorenzo

Guest
That is good news they only found one mutation. Hopefully that means your son does not have cf. But I don't think your son's case is an easy one to declare no cf/cf. Has he had nasal potential difference testing? I would think that test would help in getting a better picture of what is going on. Are your children going to a cf clinic? It is highly unusual for a pediatrician to have the knowledge about cf and ambry testing. You should only be speaking with a cf dr not nurse, pediatrician, etc. clinic about these test results. There are a number of cfers who only show one gene but are given the diagnosis of cf. Occasionally I have heard of some being diagnosed when no genes show up. The reason is there are a number of genes that are not yet identified. With a positive sweat test, two high normals, one gene identified, polyps, sinus problems, GI problems, sibling with cf symptoms = I think you could easily find cf drs who are wiling to give you a cf diagnosis. I don't like having to say all of that. The last thing I want for someone is to have a another child with cf. But worse than that is a child who has cf who is not getting the treatment they need. Hopefully my statements are wrong and I obviously don't have the degree or information to make bold statements about who has cf or who doesn't. I just don't think you have enough information yet to have a final answer.
Sharon, mom of Sophia, 7 and Jack, 5 both with cf, Grant, 5 month no cf
 
S

sdelorenzo

Guest
That is good news they only found one mutation. Hopefully that means your son does not have cf. But I don't think your son's case is an easy one to declare no cf/cf. Has he had nasal potential difference testing? I would think that test would help in getting a better picture of what is going on. Are your children going to a cf clinic? It is highly unusual for a pediatrician to have the knowledge about cf and ambry testing. You should only be speaking with a cf dr not nurse, pediatrician, etc. clinic about these test results. There are a number of cfers who only show one gene but are given the diagnosis of cf. Occasionally I have heard of some being diagnosed when no genes show up. The reason is there are a number of genes that are not yet identified. With a positive sweat test, two high normals, one gene identified, polyps, sinus problems, GI problems, sibling with cf symptoms = I think you could easily find cf drs who are wiling to give you a cf diagnosis. I don't like having to say all of that. The last thing I want for someone is to have a another child with cf. But worse than that is a child who has cf who is not getting the treatment they need. Hopefully my statements are wrong and I obviously don't have the degree or information to make bold statements about who has cf or who doesn't. I just don't think you have enough information yet to have a final answer.
Sharon, mom of Sophia, 7 and Jack, 5 both with cf, Grant, 5 month no cf
 
S

sdelorenzo

Guest
That is good news they only found one mutation. Hopefully that means your son does not have cf. But I don't think your son's case is an easy one to declare no cf/cf. Has he had nasal potential difference testing? I would think that test would help in getting a better picture of what is going on. Are your children going to a cf clinic? It is highly unusual for a pediatrician to have the knowledge about cf and ambry testing. You should only be speaking with a cf dr not nurse, pediatrician, etc. clinic about these test results. There are a number of cfers who only show one gene but are given the diagnosis of cf. Occasionally I have heard of some being diagnosed when no genes show up. The reason is there are a number of genes that are not yet identified. With a positive sweat test, two high normals, one gene identified, polyps, sinus problems, GI problems, sibling with cf symptoms = I think you could easily find cf drs who are wiling to give you a cf diagnosis. I don't like having to say all of that. The last thing I want for someone is to have a another child with cf. But worse than that is a child who has cf who is not getting the treatment they need. Hopefully my statements are wrong and I obviously don't have the degree or information to make bold statements about who has cf or who doesn't. I just don't think you have enough information yet to have a final answer.
<br />Sharon, mom of Sophia, 7 and Jack, 5 both with cf, Grant, 5 month no cf
 
P

Paige3

New member
Hi, the only tests he has had are the sweat tests and the DNA test. We were referred to a Dr. at a cf clinic but they canceled the appt. and resch. us with a nurse practioner. She is the one who told us at the first appt. she was 99% sure ds did not have cf that the local hospital where he had his sweat test done was not very accurate, but after he had the dual sweat tests that were high normal at their hospital they told us we had to wait for the DNA test results.

I think the DNA test is the Ambry amplified, it took 6 weeks to get the full results back and the nurse said the mutation ds has is very rare.

The test report says approximately 2% of patients with classic cf will have only one mutation detected.

I plan to ask the ent dr. if he thinks the mutation could cause the sinus issues and get his opinion. He was the one who ordered the DNA test when we told him about the first sweat test.

I searched on here for info on p.L997F mutation and found a little info but nothing much recent, would really like any info that could be useful.

Thanks.<img src="i/expressions/face-icon-small-happy.gif" border="0">
 
P

Paige3

New member
Hi, the only tests he has had are the sweat tests and the DNA test. We were referred to a Dr. at a cf clinic but they canceled the appt. and resch. us with a nurse practioner. She is the one who told us at the first appt. she was 99% sure ds did not have cf that the local hospital where he had his sweat test done was not very accurate, but after he had the dual sweat tests that were high normal at their hospital they told us we had to wait for the DNA test results.

I think the DNA test is the Ambry amplified, it took 6 weeks to get the full results back and the nurse said the mutation ds has is very rare.

The test report says approximately 2% of patients with classic cf will have only one mutation detected.

I plan to ask the ent dr. if he thinks the mutation could cause the sinus issues and get his opinion. He was the one who ordered the DNA test when we told him about the first sweat test.

I searched on here for info on p.L997F mutation and found a little info but nothing much recent, would really like any info that could be useful.

Thanks.<img src="i/expressions/face-icon-small-happy.gif" border="0">
 
P

Paige3

New member
Hi, the only tests he has had are the sweat tests and the DNA test. We were referred to a Dr. at a cf clinic but they canceled the appt. and resch. us with a nurse practioner. She is the one who told us at the first appt. she was 99% sure ds did not have cf that the local hospital where he had his sweat test done was not very accurate, but after he had the dual sweat tests that were high normal at their hospital they told us we had to wait for the DNA test results.

I think the DNA test is the Ambry amplified, it took 6 weeks to get the full results back and the nurse said the mutation ds has is very rare.

The test report says approximately 2% of patients with classic cf will have only one mutation detected.

I plan to ask the ent dr. if he thinks the mutation could cause the sinus issues and get his opinion. He was the one who ordered the DNA test when we told him about the first sweat test.

I searched on here for info on p.L997F mutation and found a little info but nothing much recent, would really like any info that could be useful.

Thanks.<img src="i/expressions/face-icon-small-happy.gif" border="0">
 
P

Paige3

New member
Hi, the only tests he has had are the sweat tests and the DNA test. We were referred to a Dr. at a cf clinic but they canceled the appt. and resch. us with a nurse practioner. She is the one who told us at the first appt. she was 99% sure ds did not have cf that the local hospital where he had his sweat test done was not very accurate, but after he had the dual sweat tests that were high normal at their hospital they told us we had to wait for the DNA test results.

I think the DNA test is the Ambry amplified, it took 6 weeks to get the full results back and the nurse said the mutation ds has is very rare.

The test report says approximately 2% of patients with classic cf will have only one mutation detected.

I plan to ask the ent dr. if he thinks the mutation could cause the sinus issues and get his opinion. He was the one who ordered the DNA test when we told him about the first sweat test.

I searched on here for info on p.L997F mutation and found a little info but nothing much recent, would really like any info that could be useful.

Thanks.<img src="i/expressions/face-icon-small-happy.gif" border="0">
 
P

Paige3

New member
Hi, the only tests he has had are the sweat tests and the DNA test. We were referred to a Dr. at a cf clinic but they canceled the appt. and resch. us with a nurse practioner. She is the one who told us at the first appt. she was 99% sure ds did not have cf that the local hospital where he had his sweat test done was not very accurate, but after he had the dual sweat tests that were high normal at their hospital they told us we had to wait for the DNA test results.
<br />
<br />I think the DNA test is the Ambry amplified, it took 6 weeks to get the full results back and the nurse said the mutation ds has is very rare.
<br />
<br />The test report says approximately 2% of patients with classic cf will have only one mutation detected.
<br />
<br />I plan to ask the ent dr. if he thinks the mutation could cause the sinus issues and get his opinion. He was the one who ordered the DNA test when we told him about the first sweat test.
<br />
<br />I searched on here for info on p.L997F mutation and found a little info but nothing much recent, would really like any info that could be useful.
<br />
<br />Thanks.<img src="i/expressions/face-icon-small-happy.gif" border="0">
 
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