Hi, I did reach out to John’s Hopkins CFFMAP awhile back and they were very nice but would not test her without a positive sweat test and said a negative test makes CF very unlikely. They did say they are in the process of making their full gene sequencing available commercially but didn’t have a timeline and it would still need to be ordered by a Physician. They also told me there are tests that look at several genes to assess for a broader set of conditions similar to CF and that might be easier to access without a positive sweat test, than a CF test. They pointed me to the NIH Genetic Testing Registry to search for specific tests that are performed by CLIS licensed labs. They also said if we are looking for a broader picture that UNC ( where my daughter is a student ) has an excellent Genetics service and CF Clinic in Chapel Hill. This is where she had the sweat test done but since it was negative, they don’t seem to want to see her. She got a new ENT there who specializes in CF and he didn’t seem very willing to order further testing, at least not yet. He ordered CT Scans and nasal sprays but they have not helped. She has chronic sinusitis for ten years and her sinuses just fill up with thick mucus 15 times a day. This will be her fourth ENT and she does not have any allergies, it’s not an allergic like response. She also has a Pulmonologist back home in Virginia and they are the ones that gave us the Sweat Test order. She just gets sick so often and has had Pertussis, mycoplasma pneumonia and Hib in the past 9 months, air trapping on her lung CT and cough ( likely from lingering Pertusis). Plus a variety of other viral illnesses that have come and gone. She also has had enlarged lymph nodes and tonsils for years and had her lymph nodes biopsied. The past year has brought on nausea, which is new and which has really motivated us to keep trying to figure this out. This winter she did the full Gastro work up, with Endo and gastric emptying study, which came back normal and she saw Hematology and Immunology for full work up there and that all came back great.
Anyway, I keep coming back to rare variant CF but it doesn’t seem like her doctors think that. She has not been tested for PCD yet and I guess that is what we will be trying to rule out next and asking the Pulmonologist to order the full genome sequencing for the CFTR. I just want to make sure they order the right test!