need help understanding a test result

[badjaw]

hello

i want to know if it is possible for the full genetic testing for cf can come back negative and still have cf. my sons sweat tests were in the 40s and he had the screening for the 32 mutations done that was neg. so they sent his blood to a lab is california for 10wks and that was neg. the lung center was kind of stumped but they have patients with cf that present like this. he was in the hospital bc he got hit by a gastointestinal virus that wiped his body out. they never found out the specific virus but decided to test him with cf. his pancreas was not working but now it slowly is. a gi doctor said a virus could do this to your system but why the positive sweat test.

 

[badjaw]

hello

i want to know if it is possible for the full genetic testing for cf can come back negative and still have cf. my sons sweat tests were in the 40s and he had the screening for the 32 mutations done that was neg. so they sent his blood to a lab is california for 10wks and that was neg. the lung center was kind of stumped but they have patients with cf that present like this. he was in the hospital bc he got hit by a gastointestinal virus that wiped his body out. they never found out the specific virus but decided to test him with cf. his pancreas was not working but now it slowly is. a gi doctor said a virus could do this to your system but why the positive sweat test.

 

[badjaw]

hello

i want to know if it is possible for the full genetic testing for cf can come back negative and still have cf. my sons sweat tests were in the 40s and he had the screening for the 32 mutations done that was neg. so they sent his blood to a lab is california for 10wks and that was neg. the lung center was kind of stumped but they have patients with cf that present like this. he was in the hospital bc he got hit by a gastointestinal virus that wiped his body out. they never found out the specific virus but decided to test him with cf. his pancreas was not working but now it slowly is. a gi doctor said a virus could do this to your system but why the positive sweat test.

 

[badjaw]

hello

i want to know if it is possible for the full genetic testing for cf can come back negative and still have cf. my sons sweat tests were in the 40s and he had the screening for the 32 mutations done that was neg. so they sent his blood to a lab is california for 10wks and that was neg. the lung center was kind of stumped but they have patients with cf that present like this. he was in the hospital bc he got hit by a gastointestinal virus that wiped his body out. they never found out the specific virus but decided to test him with cf. his pancreas was not working but now it slowly is. a gi doctor said a virus could do this to your system but why the positive sweat test.

 

[badjaw]

hello

i want to know if it is possible for the full genetic testing for cf can come back negative and still have cf. my sons sweat tests were in the 40s and he had the screening for the 32 mutations done that was neg. so they sent his blood to a lab is california for 10wks and that was neg. the lung center was kind of stumped but they have patients with cf that present like this. he was in the hospital bc he got hit by a gastointestinal virus that wiped his body out. they never found out the specific virus but decided to test him with cf. his pancreas was not working but now it slowly is. a gi doctor said a virus could do this to your system but why the positive sweat test.

 

[amber682]

My son was diagnosed by positive sweat test around 3 months old. They sent blood to california also (Ambry genetics) just because they said they like to always base it on 2 positive tests if possible, even though we were 100% that he had CF. The test came back months later only picking up one gene mutation. It also said on the results paper that a full sequence gene analysis was recommended. My son's doctor OK'd it and about 6-8 weeks later it came back that they had picked up the other (rarer) gene. I'd ask for a copy of the test results if you haven't already and see if it was the full sequence analysis.

 

[amber682]

My son was diagnosed by positive sweat test around 3 months old. They sent blood to california also (Ambry genetics) just because they said they like to always base it on 2 positive tests if possible, even though we were 100% that he had CF. The test came back months later only picking up one gene mutation. It also said on the results paper that a full sequence gene analysis was recommended. My son's doctor OK'd it and about 6-8 weeks later it came back that they had picked up the other (rarer) gene. I'd ask for a copy of the test results if you haven't already and see if it was the full sequence analysis.

 

[amber682]

My son was diagnosed by positive sweat test around 3 months old. They sent blood to california also (Ambry genetics) just because they said they like to always base it on 2 positive tests if possible, even though we were 100% that he had CF. The test came back months later only picking up one gene mutation. It also said on the results paper that a full sequence gene analysis was recommended. My son's doctor OK'd it and about 6-8 weeks later it came back that they had picked up the other (rarer) gene. I'd ask for a copy of the test results if you haven't already and see if it was the full sequence analysis.

 

[amber682]

My son was diagnosed by positive sweat test around 3 months old. They sent blood to california also (Ambry genetics) just because they said they like to always base it on 2 positive tests if possible, even though we were 100% that he had CF. The test came back months later only picking up one gene mutation. It also said on the results paper that a full sequence gene analysis was recommended. My son's doctor OK'd it and about 6-8 weeks later it came back that they had picked up the other (rarer) gene. I'd ask for a copy of the test results if you haven't already and see if it was the full sequence analysis.

 

[amber682]

My son was diagnosed by positive sweat test around 3 months old. They sent blood to california also (Ambry genetics) just because they said they like to always base it on 2 positive tests if possible, even though we were 100% that he had CF. The test came back months later only picking up one gene mutation. It also said on the results paper that a full sequence gene analysis was recommended. My son's doctor OK'd it and about 6-8 weeks later it came back that they had picked up the other (rarer) gene. I'd ask for a copy of the test results if you haven't already and see if it was the full sequence analysis.

 

[Buckeye]

It is possible to have a CF diagnosis when no mutations are found. Rare, but possible. They might diagnose with two positive sweat tests plus other clinical signs of CF and the assumption would be that that person's mutations have not been discovered yet. Every year they find more and more mutations - they have something like 1,800 now and the list keeps growing.

 

[Buckeye]

It is possible to have a CF diagnosis when no mutations are found. Rare, but possible. They might diagnose with two positive sweat tests plus other clinical signs of CF and the assumption would be that that person's mutations have not been discovered yet. Every year they find more and more mutations - they have something like 1,800 now and the list keeps growing.

 

[Buckeye]

It is possible to have a CF diagnosis when no mutations are found. Rare, but possible. They might diagnose with two positive sweat tests plus other clinical signs of CF and the assumption would be that that person's mutations have not been discovered yet. Every year they find more and more mutations - they have something like 1,800 now and the list keeps growing.

 

[Buckeye]

It is possible to have a CF diagnosis when no mutations are found. Rare, but possible. They might diagnose with two positive sweat tests plus other clinical signs of CF and the assumption would be that that person's mutations have not been discovered yet. Every year they find more and more mutations - they have something like 1,800 now and the list keeps growing.

 

[Buckeye]

It is possible to have a CF diagnosis when no mutations are found. Rare, but possible. They might diagnose with two positive sweat tests plus other clinical signs of CF and the assumption would be that that person's mutations have not been discovered yet. Every year they find more and more mutations - they have something like 1,800 now and the list keeps growing.

 

[badjaw]

thank you
that is what they said,but when you have other doctors, besides the lung center, who are not specialist saying that it is odd, it gives you false hope i quess. i know my sons case is very interesting to all the doctors working on him. he sees lung center, pediat., cardiologist, hemotologist, gi, and next allergist. too many!!!!

 

[badjaw]

thank you
that is what they said,but when you have other doctors, besides the lung center, who are not specialist saying that it is odd, it gives you false hope i quess. i know my sons case is very interesting to all the doctors working on him. he sees lung center, pediat., cardiologist, hemotologist, gi, and next allergist. too many!!!!

 

[badjaw]

thank you
that is what they said,but when you have other doctors, besides the lung center, who are not specialist saying that it is odd, it gives you false hope i quess. i know my sons case is very interesting to all the doctors working on him. he sees lung center, pediat., cardiologist, hemotologist, gi, and next allergist. too many!!!!

 

[badjaw]

thank you
that is what they said,but when you have other doctors, besides the lung center, who are not specialist saying that it is odd, it gives you false hope i quess. i know my sons case is very interesting to all the doctors working on him. he sees lung center, pediat., cardiologist, hemotologist, gi, and next allergist. too many!!!!

 

[badjaw]

thank you
that is what they said,but when you have other doctors, besides the lung center, who are not specialist saying that it is odd, it gives you false hope i quess. i know my sons case is very interesting to all the doctors working on him. he sees lung center, pediat., cardiologist, hemotologist, gi, and next allergist. too many!!!!