User login

Enter your username and password here in order to log in on the website:

Forgot your password?

Please note: While some information will still be current in a year, other information may already be out of date in three months time.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.

Genotype 7T

I am 12 weeks pregnant and have been checked for CF mutations (47 mutations). The results were negative for the most frequent mutations (46 mutations). The sample shows the genotype 7T/7T at position IVS8 polyT in the CFTR gene. Is it something I must worry about? My spouse has not been tested. Must he? Thank you in advance!
Dear friend,
You are 12 weeks pregnant and you have been checked for a large percentage of CF mutations. Basically, you were checked for the 46 most frequent CF mutations with negative results. From the polyT test the genotype T7/T7 was found, which is normal in your case. This testing is important if there is a specific mutation in the same chromosome, so it is clinically important if 5T is detected.
In the CFTR2 database, which is the biggest reference system created by information about the clinical importance of each mutation collected from national registries, or from large CF centers, for 89502 patients, the importance of just 374 mutations has been established.
312 of these mutations cause CF
36 present various clinical symptoms
13 mutations do not cause mutations
13 mutations are of unknown importance

You have been checked for the 46 most frequent CF mutations and you have decreased the chances for CF to a very great degree, but not totally excluded. Most certainly it would be safer for your spouse to get tested as well.
Yours friendly,
Dr. Stavros Doudounakis