User login
Enter your username and password here in order to log in on the website:
Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.
Genetics
- Question
- Hello,
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! - Answer
- 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:
https://muko.info/mukoviszidose-institut/forschungsfoerderung/strukturfoerderung/referenzzentren-cftr-analytik.html
Please contact the center near to your home.
Best wishes,
Frauke Stanke - 07.11.2016
