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.

Well, 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 pneumonia 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.

Well, 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 pneumonia 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.

Well, 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 pneumonia 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.

Well, 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 pneumonia 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 />Well, 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 pneumonia 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?
 
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