I'm 35, my doctors have checked to see if any of the labs or local hospitals perform sweat tests on adults and it doesn't appear like any of them offer the test to adults.
I've been experiencing contraction alkalosis post exercise and i have a history of abdominal pain/digestive problems. My grandmother died in her late 40's from pneumonia after being diagnosed with chronic pancreatitis a few years prior. I have the following CFTR variants:
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala)
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys)
NM_000492.3(CFTR):c.1408G>A (p.Val470Met)
NM_000492.3(CFTR):c.1680-870T>A
NM_000492.3(CFTR):c.4389G>A (p.Gln1463=)
I don't know if the 576 & 668 are in cis or trans, apparently they are too far apart to tell from NGS. I know this would be an atypical CF presentation, but I would like to have sweat test.
I've been experiencing contraction alkalosis post exercise and i have a history of abdominal pain/digestive problems. My grandmother died in her late 40's from pneumonia after being diagnosed with chronic pancreatitis a few years prior. I have the following CFTR variants:
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala)
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys)
NM_000492.3(CFTR):c.1408G>A (p.Val470Met)
NM_000492.3(CFTR):c.1680-870T>A
NM_000492.3(CFTR):c.4389G>A (p.Gln1463=)
I don't know if the 576 & 668 are in cis or trans, apparently they are too far apart to tell from NGS. I know this would be an atypical CF presentation, but I would like to have sweat test.