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New with Questions

J

Justsmurfin

New member
It IS possible to have CF and for genetics testing to not identify one or both genes. Obviously would be EXTREMELY rare to not be able to identidy either!

I have CF...most of the classic symptoms, positive sweat tests and yet so far only 1 mutation identified...DF508. My 2nd is yet to be identified yet noone questions my CF diagnosis! I def have it, I just have a rare mutation. I do have to say I was diagnosed and gene tested before Ambry and Quest's full panel DNA testing came out. And due to insurance issues(like no insurance!) I haven't been tested through them so its entirely possible my 2nd one could be identified now.

Generally a CF diagnosis is made from a combo of things....Clinical symptoms, sweat test, DNA testing and in harder to diagnose cases NPD testing
 
J

Justsmurfin

New member
It IS possible to have CF and for genetics testing to not identify one or both genes. Obviously would be EXTREMELY rare to not be able to identidy either!

I have CF...most of the classic symptoms, positive sweat tests and yet so far only 1 mutation identified...DF508. My 2nd is yet to be identified yet noone questions my CF diagnosis! I def have it, I just have a rare mutation. I do have to say I was diagnosed and gene tested before Ambry and Quest's full panel DNA testing came out. And due to insurance issues(like no insurance!) I haven't been tested through them so its entirely possible my 2nd one could be identified now.

Generally a CF diagnosis is made from a combo of things....Clinical symptoms, sweat test, DNA testing and in harder to diagnose cases NPD testing
 
J

Justsmurfin

New member
It IS possible to have CF and for genetics testing to not identify one or both genes. Obviously would be EXTREMELY rare to not be able to identidy either!

I have CF...most of the classic symptoms, positive sweat tests and yet so far only 1 mutation identified...DF508. My 2nd is yet to be identified yet noone questions my CF diagnosis! I def have it, I just have a rare mutation. I do have to say I was diagnosed and gene tested before Ambry and Quest's full panel DNA testing came out. And due to insurance issues(like no insurance!) I haven't been tested through them so its entirely possible my 2nd one could be identified now.

Generally a CF diagnosis is made from a combo of things....Clinical symptoms, sweat test, DNA testing and in harder to diagnose cases NPD testing
 
A

anonymous

New member
My brother also went for sperm testing because of infertility problems and when he came back with a zero count they tested him for cf. He has suffered with asthma symptoms for many years. His sweat test was borderline but the expanded genetic test found the two genes. After he had his first sputum culture it was discovered he has a bad lung infection that required multible strong antibiotics. He is doing much better now that he has been treated. I reallly recommend that your husband be examined by a cf doctor to rule out cf and to have a sputum culture done to see if his lungs are infected with any cf prone bacterias. I hope he will be fine.
 
A

anonymous

New member
My brother also went for sperm testing because of infertility problems and when he came back with a zero count they tested him for cf. He has suffered with asthma symptoms for many years. His sweat test was borderline but the expanded genetic test found the two genes. After he had his first sputum culture it was discovered he has a bad lung infection that required multible strong antibiotics. He is doing much better now that he has been treated. I reallly recommend that your husband be examined by a cf doctor to rule out cf and to have a sputum culture done to see if his lungs are infected with any cf prone bacterias. I hope he will be fine.
 
A

anonymous

New member
My brother also went for sperm testing because of infertility problems and when he came back with a zero count they tested him for cf. He has suffered with asthma symptoms for many years. His sweat test was borderline but the expanded genetic test found the two genes. After he had his first sputum culture it was discovered he has a bad lung infection that required multible strong antibiotics. He is doing much better now that he has been treated. I reallly recommend that your husband be examined by a cf doctor to rule out cf and to have a sputum culture done to see if his lungs are infected with any cf prone bacterias. I hope he will be fine.
 
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