1st Genetic test- 1 mutation shown... further testing?

M

Mommy2Zeke

Guest
Okay... I've posted about this before, but now I'm posting after finding out the first round of results. I have some questions for those who have gone through the testing process before.

My son has CF (DDf508) and after learning so much about CF over the last year, I think I might have it too...but definitely a 'mild' version of it.

The first test they ran was only testing for 23(?) mutations. Of course, it came back saying I had one Df508 mutation (duh.) My question is, do you all think I should pursue testing further? With such a small sampling of mutations on the panel, I don't feel it's really a definitive answer given my symptoms.

Lately I've been having daily coughing fits. My FEVs seem to be fine according to the last dr. appt. with my allergist, within normal range, but my oxygen sat varies from 99-86. I have coughing sessions at least once a day that usually produce mucous, I get bronchitis very easily and pneumonia about twice a year. I have an inexplicably low resistance to illness, chronic sinusitis,and a very sensitive gastrointestinal tract (diagnosed IBS), but I am pancreatic sufficient. (And I tend to get atypical pneumonias but they've never run a full culture to know exactly what is causing it).

Should I continue genetic testing? Has anyone ever gotten insurance to cover the Ambry panel? Or should I get a sweat test before going ahead with genetic testing? Or should I give up altogether and just consider myself a symptomatic carrier?
 
M

Mommy2Zeke

Guest
Okay... I've posted about this before, but now I'm posting after finding out the first round of results. I have some questions for those who have gone through the testing process before.

My son has CF (DDf508) and after learning so much about CF over the last year, I think I might have it too...but definitely a 'mild' version of it.

The first test they ran was only testing for 23(?) mutations. Of course, it came back saying I had one Df508 mutation (duh.) My question is, do you all think I should pursue testing further? With such a small sampling of mutations on the panel, I don't feel it's really a definitive answer given my symptoms.

Lately I've been having daily coughing fits. My FEVs seem to be fine according to the last dr. appt. with my allergist, within normal range, but my oxygen sat varies from 99-86. I have coughing sessions at least once a day that usually produce mucous, I get bronchitis very easily and pneumonia about twice a year. I have an inexplicably low resistance to illness, chronic sinusitis,and a very sensitive gastrointestinal tract (diagnosed IBS), but I am pancreatic sufficient. (And I tend to get atypical pneumonias but they've never run a full culture to know exactly what is causing it).

Should I continue genetic testing? Has anyone ever gotten insurance to cover the Ambry panel? Or should I get a sweat test before going ahead with genetic testing? Or should I give up altogether and just consider myself a symptomatic carrier?
 
M

Mommy2Zeke

Guest
Okay... I've posted about this before, but now I'm posting after finding out the first round of results. I have some questions for those who have gone through the testing process before.

My son has CF (DDf508) and after learning so much about CF over the last year, I think I might have it too...but definitely a 'mild' version of it.

The first test they ran was only testing for 23(?) mutations. Of course, it came back saying I had one Df508 mutation (duh.) My question is, do you all think I should pursue testing further? With such a small sampling of mutations on the panel, I don't feel it's really a definitive answer given my symptoms.

Lately I've been having daily coughing fits. My FEVs seem to be fine according to the last dr. appt. with my allergist, within normal range, but my oxygen sat varies from 99-86. I have coughing sessions at least once a day that usually produce mucous, I get bronchitis very easily and pneumonia about twice a year. I have an inexplicably low resistance to illness, chronic sinusitis,and a very sensitive gastrointestinal tract (diagnosed IBS), but I am pancreatic sufficient. (And I tend to get atypical pneumonias but they've never run a full culture to know exactly what is causing it).

Should I continue genetic testing? Has anyone ever gotten insurance to cover the Ambry panel? Or should I get a sweat test before going ahead with genetic testing? Or should I give up altogether and just consider myself a symptomatic carrier?
 
M

Mommy2Zeke

Guest
Okay... I've posted about this before, but now I'm posting after finding out the first round of results. I have some questions for those who have gone through the testing process before.

My son has CF (DDf508) and after learning so much about CF over the last year, I think I might have it too...but definitely a 'mild' version of it.

The first test they ran was only testing for 23(?) mutations. Of course, it came back saying I had one Df508 mutation (duh.) My question is, do you all think I should pursue testing further? With such a small sampling of mutations on the panel, I don't feel it's really a definitive answer given my symptoms.

Lately I've been having daily coughing fits. My FEVs seem to be fine according to the last dr. appt. with my allergist, within normal range, but my oxygen sat varies from 99-86. I have coughing sessions at least once a day that usually produce mucous, I get bronchitis very easily and pneumonia about twice a year. I have an inexplicably low resistance to illness, chronic sinusitis,and a very sensitive gastrointestinal tract (diagnosed IBS), but I am pancreatic sufficient. (And I tend to get atypical pneumonias but they've never run a full culture to know exactly what is causing it).

Should I continue genetic testing? Has anyone ever gotten insurance to cover the Ambry panel? Or should I get a sweat test before going ahead with genetic testing? Or should I give up altogether and just consider myself a symptomatic carrier?
 
M

Mommy2Zeke

Guest
Okay... I've posted about this before, but now I'm posting after finding out the first round of results. I have some questions for those who have gone through the testing process before.
<br />
<br />My son has CF (DDf508) and after learning so much about CF over the last year, I think I might have it too...but definitely a 'mild' version of it.
<br />
<br />The first test they ran was only testing for 23(?) mutations. Of course, it came back saying I had one Df508 mutation (duh.) My question is, do you all think I should pursue testing further? With such a small sampling of mutations on the panel, I don't feel it's really a definitive answer given my symptoms.
<br />
<br />Lately I've been having daily coughing fits. My FEVs seem to be fine according to the last dr. appt. with my allergist, within normal range, but my oxygen sat varies from 99-86. I have coughing sessions at least once a day that usually produce mucous, I get bronchitis very easily and pneumonia about twice a year. I have an inexplicably low resistance to illness, chronic sinusitis,and a very sensitive gastrointestinal tract (diagnosed IBS), but I am pancreatic sufficient. (And I tend to get atypical pneumonias but they've never run a full culture to know exactly what is causing it).
<br />
<br />Should I continue genetic testing? Has anyone ever gotten insurance to cover the Ambry panel? Or should I get a sweat test before going ahead with genetic testing? Or should I give up altogether and just consider myself a symptomatic carrier?
 
E

etabetac

New member
You should ask in the Ambry thread.

My other thought (though based on your son's DDF508, they probably didn't) is whether or not they ran an amplified genetic test on your son because if they did and all they found was a DDF508 and you only have one copy, I'd believe you'd be a symptomatic carrier because other people have reported back that their kids had more than 2 copies of cf causing mutations.
 
E

etabetac

New member
You should ask in the Ambry thread.

My other thought (though based on your son's DDF508, they probably didn't) is whether or not they ran an amplified genetic test on your son because if they did and all they found was a DDF508 and you only have one copy, I'd believe you'd be a symptomatic carrier because other people have reported back that their kids had more than 2 copies of cf causing mutations.
 
E

etabetac

New member
You should ask in the Ambry thread.

My other thought (though based on your son's DDF508, they probably didn't) is whether or not they ran an amplified genetic test on your son because if they did and all they found was a DDF508 and you only have one copy, I'd believe you'd be a symptomatic carrier because other people have reported back that their kids had more than 2 copies of cf causing mutations.
 
E

etabetac

New member
You should ask in the Ambry thread.

My other thought (though based on your son's DDF508, they probably didn't) is whether or not they ran an amplified genetic test on your son because if they did and all they found was a DDF508 and you only have one copy, I'd believe you'd be a symptomatic carrier because other people have reported back that their kids had more than 2 copies of cf causing mutations.
 
E

etabetac

New member
You should ask in the Ambry thread.
<br />
<br />My other thought (though based on your son's DDF508, they probably didn't) is whether or not they ran an amplified genetic test on your son because if they did and all they found was a DDF508 and you only have one copy, I'd believe you'd be a symptomatic carrier because other people have reported back that their kids had more than 2 copies of cf causing mutations.
 
M

Melissa75

Administrator
Apart from the CF gene test, which I agree you should do, you should have a high resolution CT scan in order to determine if your daily mucus production and tendency toward chest infections are caused by bronchiectasis (lung damage). If so, you should do mucus clearance and bronchodilators like a person with CF. You should also get sputum cultures when you are sick and have better tailored antibiotic use based on the bacteria you grow.

I have a low sweat test (11) and none of CF gene mutations tested for in the 95-mutation panel--yet I have what you describe--and it does require treatment and the prognosis is better with proper treatment.
 
M

Melissa75

Administrator
Apart from the CF gene test, which I agree you should do, you should have a high resolution CT scan in order to determine if your daily mucus production and tendency toward chest infections are caused by bronchiectasis (lung damage). If so, you should do mucus clearance and bronchodilators like a person with CF. You should also get sputum cultures when you are sick and have better tailored antibiotic use based on the bacteria you grow.

I have a low sweat test (11) and none of CF gene mutations tested for in the 95-mutation panel--yet I have what you describe--and it does require treatment and the prognosis is better with proper treatment.
 
M

Melissa75

Administrator
Apart from the CF gene test, which I agree you should do, you should have a high resolution CT scan in order to determine if your daily mucus production and tendency toward chest infections are caused by bronchiectasis (lung damage). If so, you should do mucus clearance and bronchodilators like a person with CF. You should also get sputum cultures when you are sick and have better tailored antibiotic use based on the bacteria you grow.

I have a low sweat test (11) and none of CF gene mutations tested for in the 95-mutation panel--yet I have what you describe--and it does require treatment and the prognosis is better with proper treatment.
 
M

Melissa75

Administrator
Apart from the CF gene test, which I agree you should do, you should have a high resolution CT scan in order to determine if your daily mucus production and tendency toward chest infections are caused by bronchiectasis (lung damage). If so, you should do mucus clearance and bronchodilators like a person with CF. You should also get sputum cultures when you are sick and have better tailored antibiotic use based on the bacteria you grow.

I have a low sweat test (11) and none of CF gene mutations tested for in the 95-mutation panel--yet I have what you describe--and it does require treatment and the prognosis is better with proper treatment.
 
M

Melissa75

Administrator
Apart from the CF gene test, which I agree you should do, you should have a high resolution CT scan in order to determine if your daily mucus production and tendency toward chest infections are caused by bronchiectasis (lung damage). If so, you should do mucus clearance and bronchodilators like a person with CF. You should also get sputum cultures when you are sick and have better tailored antibiotic use based on the bacteria you grow.
<br />
<br />I have a low sweat test (11) and none of CF gene mutations tested for in the 95-mutation panel--yet I have what you describe--and it does require treatment and the prognosis is better with proper treatment.
 
M

Mommy2Zeke

Guest
I've posted in the ambry thread a week or two ago. No response yet.

They definitely didn't run the Ambry panel. I just went through a local lab that only tested for 23 of the most common mutations.
 
M

Mommy2Zeke

Guest
I've posted in the ambry thread a week or two ago. No response yet.

They definitely didn't run the Ambry panel. I just went through a local lab that only tested for 23 of the most common mutations.
 
M

Mommy2Zeke

Guest
I've posted in the ambry thread a week or two ago. No response yet.

They definitely didn't run the Ambry panel. I just went through a local lab that only tested for 23 of the most common mutations.
 
M

Mommy2Zeke

Guest
I've posted in the ambry thread a week or two ago. No response yet.

They definitely didn't run the Ambry panel. I just went through a local lab that only tested for 23 of the most common mutations.
 
M

Mommy2Zeke

Guest
I've posted in the ambry thread a week or two ago. No response yet.
<br />
<br />They definitely didn't run the Ambry panel. I just went through a local lab that only tested for 23 of the most common mutations.
<br />
<br />
 
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