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if a complete sequencing of the gene had been done 4 to 5 years ago, however the symptoms persist (mucus, colonization, pancreatic insufficieny, normal sweat test), does it make sense to have a new genetic investigation done after these years?
Many thanks!
Dear questioner,
I recommend directly a functional analysis in a specialzed center with the help of "ICM" (intestinal current measurement) or "NPD" (nasal potential difference measurement).
Both techniques can show sensitively a CFTR-caused disorder, even if the complete sequencing did not show a result.
Please find specialized centers in Germany for ICM or NPD unter:
Please contact the center near to your home.
Best wishes,
Frauke Stanke