Test Result - Does this rule out CF?

[Nervous1]

Hi Everybody,

I got my test results back for the 12 mutations tested and all were negative. Those checked were as follows, based on the fact that I am an Ashkenazi Jew ...

1717+1G->A
3849
D1152H
G542X
N1303K
W1282X
delF508
405+1G->A
G85E
S549R
W1089X
5T

Does it make sense to insist on the Ambry test?

In a previous post I described my situation ...

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal.

Thanks for all your help!

 

[Nervous1]

Hi Everybody,

I got my test results back for the 12 mutations tested and all were negative. Those checked were as follows, based on the fact that I am an Ashkenazi Jew ...

1717+1G->A
3849
D1152H
G542X
N1303K
W1282X
delF508
405+1G->A
G85E
S549R
W1089X
5T

Does it make sense to insist on the Ambry test?

In a previous post I described my situation ...

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal.

Thanks for all your help!

 

[Nervous1]

Hi Everybody,

I got my test results back for the 12 mutations tested and all were negative. Those checked were as follows, based on the fact that I am an Ashkenazi Jew ...

1717+1G->A
3849
D1152H
G542X
N1303K
W1282X
delF508
405+1G->A
G85E
S549R
W1089X
5T

Does it make sense to insist on the Ambry test?

In a previous post I described my situation ...

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal.

Thanks for all your help!

 

[Nervous1]

Hi Everybody,

I got my test results back for the 12 mutations tested and all were negative. Those checked were as follows, based on the fact that I am an Ashkenazi Jew ...

1717+1G->A
3849
D1152H
G542X
N1303K
W1282X
delF508
405+1G->A
G85E
S549R
W1089X
5T

Does it make sense to insist on the Ambry test?

In a previous post I described my situation ...

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal.

Thanks for all your help!

 

[Nervous1]

Hi Everybody,

I got my test results back for the 12 mutations tested and all were negative. Those checked were as follows, based on the fact that I am an Ashkenazi Jew ...

1717+1G->A
3849
D1152H
G542X
N1303K
W1282X
delF508
405+1G->A
G85E
S549R
W1089X
5T

Does it make sense to insist on the Ambry test?

In a previous post I described my situation ...

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal.

Thanks for all your help!

 

[JazzysMom]

When you were on antibiotics, did they test your sputum to check for common CF bacteria? If you are on the wrong meds all you are doing is wasting your time.

Also the thinness.....you say you dont have digestive issues. Do you mean no constipation or diaherea? BUT when you poop do your stools float? Did they do a fecal fat test on your stools?

Being tested for 12 mutations based on your heritage does not rule out the CF thing. It does rule out the "common" CF genes based on your heritage, but genetics & family history can be off just enough that you might not fall into the norm.

I would still push for the full panel. There seems to be a lot of things as of late that indicate something and more/more/more people are diagnosed later in life with a fight to get such a diagnosis.

Good Luck to you!

 

[JazzysMom]

When you were on antibiotics, did they test your sputum to check for common CF bacteria? If you are on the wrong meds all you are doing is wasting your time.

Also the thinness.....you say you dont have digestive issues. Do you mean no constipation or diaherea? BUT when you poop do your stools float? Did they do a fecal fat test on your stools?

Being tested for 12 mutations based on your heritage does not rule out the CF thing. It does rule out the "common" CF genes based on your heritage, but genetics & family history can be off just enough that you might not fall into the norm.

I would still push for the full panel. There seems to be a lot of things as of late that indicate something and more/more/more people are diagnosed later in life with a fight to get such a diagnosis.

Good Luck to you!

 

[JazzysMom]

When you were on antibiotics, did they test your sputum to check for common CF bacteria? If you are on the wrong meds all you are doing is wasting your time.

Also the thinness.....you say you dont have digestive issues. Do you mean no constipation or diaherea? BUT when you poop do your stools float? Did they do a fecal fat test on your stools?

Being tested for 12 mutations based on your heritage does not rule out the CF thing. It does rule out the "common" CF genes based on your heritage, but genetics & family history can be off just enough that you might not fall into the norm.

I would still push for the full panel. There seems to be a lot of things as of late that indicate something and more/more/more people are diagnosed later in life with a fight to get such a diagnosis.

Good Luck to you!

 

[JazzysMom]

When you were on antibiotics, did they test your sputum to check for common CF bacteria? If you are on the wrong meds all you are doing is wasting your time.

Also the thinness.....you say you dont have digestive issues. Do you mean no constipation or diaherea? BUT when you poop do your stools float? Did they do a fecal fat test on your stools?

Being tested for 12 mutations based on your heritage does not rule out the CF thing. It does rule out the "common" CF genes based on your heritage, but genetics & family history can be off just enough that you might not fall into the norm.

I would still push for the full panel. There seems to be a lot of things as of late that indicate something and more/more/more people are diagnosed later in life with a fight to get such a diagnosis.

Good Luck to you!

 

[JazzysMom]

When you were on antibiotics, did they test your sputum to check for common CF bacteria? If you are on the wrong meds all you are doing is wasting your time.

Also the thinness.....you say you dont have digestive issues. Do you mean no constipation or diaherea? BUT when you poop do your stools float? Did they do a fecal fat test on your stools?

Being tested for 12 mutations based on your heritage does not rule out the CF thing. It does rule out the "common" CF genes based on your heritage, but genetics & family history can be off just enough that you might not fall into the norm.

I would still push for the full panel. There seems to be a lot of things as of late that indicate something and more/more/more people are diagnosed later in life with a fight to get such a diagnosis.

Good Luck to you!

 

[Nervous1]

Hi Melissa,

Thanks for responding so quickly. In answer to your questions ...

When I was taking antibiotics they did not do a sputum check, and I have never had a fecal fat test either. I never have problem with constipation but I do occassionally have loose stools or diahrea. Never noticed whether the stools float to be honest. What is the significance of that?

Thanks for your comments and advice!

 

[Nervous1]

Hi Melissa,

Thanks for responding so quickly. In answer to your questions ...

When I was taking antibiotics they did not do a sputum check, and I have never had a fecal fat test either. I never have problem with constipation but I do occassionally have loose stools or diahrea. Never noticed whether the stools float to be honest. What is the significance of that?

Thanks for your comments and advice!

 

[Nervous1]

Hi Melissa,

Thanks for responding so quickly. In answer to your questions ...

When I was taking antibiotics they did not do a sputum check, and I have never had a fecal fat test either. I never have problem with constipation but I do occassionally have loose stools or diahrea. Never noticed whether the stools float to be honest. What is the significance of that?

Thanks for your comments and advice!

 

[Nervous1]

Hi Melissa,

Thanks for responding so quickly. In answer to your questions ...

When I was taking antibiotics they did not do a sputum check, and I have never had a fecal fat test either. I never have problem with constipation but I do occassionally have loose stools or diahrea. Never noticed whether the stools float to be honest. What is the significance of that?

Thanks for your comments and advice!

 

[Nervous1]

Hi Melissa,

Thanks for responding so quickly. In answer to your questions ...

When I was taking antibiotics they did not do a sputum check, and I have never had a fecal fat test either. I never have problem with constipation but I do occassionally have loose stools or diahrea. Never noticed whether the stools float to be honest. What is the significance of that?

Thanks for your comments and advice!

 

[Emily65Roses]

The significance of that is if you're not absorbing fat properly, your stools will be different. And part of CF is not absorbing food properly. I don't know the rule on this, but I think it works that if your stools float, they have more fat in them than they should. I believe "healthy" turds are supposed to sink. Heh.

If you don't want to push for the full panel, at least push for one of the next tests. There are a few. One tests for such a small amount, I don't know why they do it at all (that's the one you got). One of them I think tests for 30-ish. I would request that they do the one that tests for 80 or 90. There are more than 1,000 different CF mutations. Testing for 12 of them doesn't really rule out a damn thing, unfortunately. And there are many CFers here that were dx as adults. I think we have one here who was dx at the age of 50. CF symptoms vary so much you could easily just be one of the "healthier" ones.

For me personally, if they had only tested the top 12, I wouldn't have shown up. My DeltaF508 would've shown up, but my other mutation is in the 80-90 test. It's very possible you have two mutations that are less common.

 

[Emily65Roses]

The significance of that is if you're not absorbing fat properly, your stools will be different. And part of CF is not absorbing food properly. I don't know the rule on this, but I think it works that if your stools float, they have more fat in them than they should. I believe "healthy" turds are supposed to sink. Heh.

If you don't want to push for the full panel, at least push for one of the next tests. There are a few. One tests for such a small amount, I don't know why they do it at all (that's the one you got). One of them I think tests for 30-ish. I would request that they do the one that tests for 80 or 90. There are more than 1,000 different CF mutations. Testing for 12 of them doesn't really rule out a damn thing, unfortunately. And there are many CFers here that were dx as adults. I think we have one here who was dx at the age of 50. CF symptoms vary so much you could easily just be one of the "healthier" ones.

For me personally, if they had only tested the top 12, I wouldn't have shown up. My DeltaF508 would've shown up, but my other mutation is in the 80-90 test. It's very possible you have two mutations that are less common.

 

[Emily65Roses]

The significance of that is if you're not absorbing fat properly, your stools will be different. And part of CF is not absorbing food properly. I don't know the rule on this, but I think it works that if your stools float, they have more fat in them than they should. I believe "healthy" turds are supposed to sink. Heh.

If you don't want to push for the full panel, at least push for one of the next tests. There are a few. One tests for such a small amount, I don't know why they do it at all (that's the one you got). One of them I think tests for 30-ish. I would request that they do the one that tests for 80 or 90. There are more than 1,000 different CF mutations. Testing for 12 of them doesn't really rule out a damn thing, unfortunately. And there are many CFers here that were dx as adults. I think we have one here who was dx at the age of 50. CF symptoms vary so much you could easily just be one of the "healthier" ones.

For me personally, if they had only tested the top 12, I wouldn't have shown up. My DeltaF508 would've shown up, but my other mutation is in the 80-90 test. It's very possible you have two mutations that are less common.

 

[Emily65Roses]

The significance of that is if you're not absorbing fat properly, your stools will be different. And part of CF is not absorbing food properly. I don't know the rule on this, but I think it works that if your stools float, they have more fat in them than they should. I believe "healthy" turds are supposed to sink. Heh.

If you don't want to push for the full panel, at least push for one of the next tests. There are a few. One tests for such a small amount, I don't know why they do it at all (that's the one you got). One of them I think tests for 30-ish. I would request that they do the one that tests for 80 or 90. There are more than 1,000 different CF mutations. Testing for 12 of them doesn't really rule out a damn thing, unfortunately. And there are many CFers here that were dx as adults. I think we have one here who was dx at the age of 50. CF symptoms vary so much you could easily just be one of the "healthier" ones.

For me personally, if they had only tested the top 12, I wouldn't have shown up. My DeltaF508 would've shown up, but my other mutation is in the 80-90 test. It's very possible you have two mutations that are less common.

 

[Emily65Roses]

The significance of that is if you're not absorbing fat properly, your stools will be different. And part of CF is not absorbing food properly. I don't know the rule on this, but I think it works that if your stools float, they have more fat in them than they should. I believe "healthy" turds are supposed to sink. Heh.

If you don't want to push for the full panel, at least push for one of the next tests. There are a few. One tests for such a small amount, I don't know why they do it at all (that's the one you got). One of them I think tests for 30-ish. I would request that they do the one that tests for 80 or 90. There are more than 1,000 different CF mutations. Testing for 12 of them doesn't really rule out a damn thing, unfortunately. And there are many CFers here that were dx as adults. I think we have one here who was dx at the age of 50. CF symptoms vary so much you could easily just be one of the "healthier" ones.

For me personally, if they had only tested the top 12, I wouldn't have shown up. My DeltaF508 would've shown up, but my other mutation is in the 80-90 test. It's very possible you have two mutations that are less common.