Anyone been tested for Cystic Fibrosis since Bronchiectasis diagnosis?

@mtyler, my own diagnosis of CF followed years with bronchiectasis. When the treatments for bronchiectasis simply weren't sufficient, a Mayo Clinic pulmonologist had me tested (sweat test, filled by DNA testing) and I was then told I have CF. The main difference in treatment that the CF diagnosis made possible is Trikafta which has made a huge difference in my lungs and life. I am curious, where do you live, and have you found a good pulmonologist?

I believe there are current studies to determine if there is a link between bronchiectasis and being a carrier for one mutant gene for CF, passed from one parent. (I believe you need two mutant genes, one from each parent, to have CF.) I haven't been following the studies so I don't know where they stand at this point insofar as determining an actual causal link.

I was tested for C/F in 2025 at National Jewish Hospital - I am a carrier of the gene, but do not have C/F. i was diagnosed in 2002 with NTM & treated for 18 months on a 3 pill regimen. I now have bronchiectasis & taking Brinsupri which has all but eliminated exacerbations & reduced nebulizing to every 3-4 days.

I tested positive for being a CF carrier after Bronchiectasis diagnosis. There are over 1000 CF mutations I was told so further genetic testing to look for a connection out of reach and anyway treatment is the same.

Last year I was diagnosed with mild, diffuse cylindrical bronchiectasis on a Calcium Score CT. I do not have a daily cough and I have normal PFTs. I do have three variants of unknown significance for Primary Ciliary Dyskinesia along with some other matching conditions including the Bronchiectasis. I made an appointment at UVA because they have a Bronchiectasis clinic and are a clinical center for PCD. I had to wait months but the doctor I am seeing there is really nice and very thorough.

Part of diagnosing PCD involves ruling out CF. The doctor says they have diagnosed many adults with CF. My genetic results were negative for the main CFTR mutations as expected but my results from my sweat test yesterday were mildly elevated at 34mmol. My understanding is above 60 is usually diagnostic for CF and anything between 30-59mmol requires more testing. I am waiting to hear back on next steps. I think they may have an expanded genetic panel. After Googling my results I see that some PCD people have mildly elevated sweat testing due to CFTR problems without having any CFTR mutation so we’ll see. I know some of these diagnoses don’t change basic treatment options but it’s nice to know the source of issues.

I have had the sweat chloride test as well, mildly elevated. I have not had any CFTR gene testing. I have had other blood work and sputum samples checking for CF but all good results so far. I have asked my dr (also the director of the care center clinic I go to) about CFTR gene testing but he int recommending at this point with sweat chloride just being mildly elevated and all other negative.

@kate2025
What other bloodwork and sputum samples check for CF??

@irenea8 I was diagnosed with CF five years ago, after a positive sweat test and a DNA study by Johns Hopkins. I have also had countless blood tests and sputum samples for a variety of other issues (heart disease, anemia, periodic lung infections, etc.), but nobody has ever suggested that any findings from those were indicative of CF. I do have Bronchiectasis, so my sputum samples are probably no different than those of anyone with non-CF Bronchiectasis. Hope that helps.

@ckscoville Did the CF findings change your treatment?

I go to Hopkins and they recently did a Genetic Zoom blood test which resulted in showing I have one CFTR gene. Next is a research study taking some cells and testing them against some CF medications. Then that result is sent to my doctor who then decides if I need more Genetic Testing or something else. This is taking for ever to get done and the information I get is very limited from everyone at Hopkins or maybe I just don't understand how this works.

Would you mind sharing what your process was at Hopkins? I see Dr Belz.

@sherrig The primary difference in treatment was/is Trikafta. When they learned that my own genetic deficiency allows me to take Trikafta, my life changed for the better (despite the enormous cost of the drug!). No more 30-40 minute coughing fits when I lie down to sleep, and far fewer bouts with lung infections. Mayo Clinic in Jacksonville has a great CF team that has really made a big difference in my life. As far as the testing at Johns Hopkins, Mayo Clinic ordered a DNA test -- swab done at home and then mailed to Johns Hopkins, with the result going back to Mayo.