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.”
2. RESULT: HETEROZYGOUS FOR THE c.3367+37G>A CFTR VARIANT
3. ADDITIONAL COMMENTS: The status of the intron 9 polymorphismis 7T/7T and the TG status is 11TG/10TG.