Anyone have any insight into these findings?


New member
Brief history: My daughter is four. She has been diagnosed with failure to thrive and short stature (despite good eating habits and her height is much smaller than they would estimate based on family history). She is below 0% for weight on the growth charts and below 3% for height. She has had several boughts of pneumonia. She has been diagnosed with chronic bronchitis. They recently discovered she carried this bacteria called Pseudomonas aeruginosa, and they put her on tobi for a month. She had a sweat test that came back intermittent. So, they did a CF genetics test. The clinic called me and said it was negative and that I had to finish the Tobi and then they would investigate other reasons for her thick mucus and whatnot. They uploaded a copy of her results, and I have some confusion. I don't go back to the pulmonologist for over a month (hard to get appointments). I understand what #1 is saying, but what does 2 and 3 mean?

I am just going to copy and paste some of the report.

1. She was negative for this: “This assay detects thirty-two mutations, including the twenty-three core mutations recommended by the American College of Medical Genetics (ACMG) and the American Congress of Obstetricians and Gynecologists (ACOG) for population-based CF carrier screening. In addition to the ACMG/ACOG panel, this assay detects nine additional mutations.”


3. ADDITIONAL COMMENTS: The status of the intron 9 polymorphismis 7T/7T and the TG status is 11TG/10TG.



New member
No insight but will suggest that the consortium on mucociliary disorders may be able to offer some. Participating clinics have contact information and in my experience were very helpful.

I have had respiratory disease since childhood and it wasn't until 2 years ago that I received a diagnosis. Not sure if they ran the full CF genetic tests on your daughter, but sometimes insurance requires hoops to get that covered and it is hard to wait for answers. Best wishes.


Staff member
Am I correct in reading under #1 that the test was to detect the 32 most common mutations? Or did they test for more?


New member
Thank you for all this information!

Yes, they tested for the common 32. She has also had a whole xemone sequencing.



New member
Hi Jenn -
Your daughter's failure to thrive and infection with pseudomonas aeruginosa are CLASSIC symptoms of CF. To my knowledge, the only people who ever get a pseudomonas infection are those with an immune disease and people with CF. As mentioned above, the genetic test they performed for CF says she has one CF mutation; but the test only checked for the MOST COMMON CF mutations. If the other gene turns out to also be a CF gene (one of the less common mutations), then she has CF.

I would not wait a month til your next visit with the pulmonologist. Go here ( ) and find the CF center nearest you. Get the soonest appointment you can. They can do a screening that looks for the less common CF mutations. And they can also advise you about her infection and her low weight/height. She may need to take a bronchodilator to open up her airways so the Tobramycin can get into the smaller airways to kill the infection. After all, an inhaled antibiotic can only reach as deep as she can inhale. Seriously, I would not wait. Especially with her extremely low weight and classic CF symptoms.

If her bowel movements are loose (not well formed) or oily, that's another classic CF symptom. I would also suggest you try to get her to eat some more protein. If she indeed has CF, she won't be able to digest fats well but will do a little better with protein. When I was very young and the digestive enzymes that CF patients use were not nearly as good as they are now, my mom was advised to put my brother and I on a high-protein baby formula - and we started gaining weight. That might help in the meantime.

Best wishes, Dan

Lynnfield mom

New member
Hi Jenn, There are almost 1500 mutations identified that cause CF. The test used for your child only tested for the most common 32. Because of your child's symptoms and findings (Pseudomonas) you should, as DanformIL suggested, find a CF center for testing and follow-up. In addition to a more accurate genetics test, they can do a sweat test to check for CF.

Good luck,