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Please note: While some information will still be current in a year, other information may already be out of date in three months time.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.
cystic fibrosis
- Question
- Hello. I have a boy that next month will be one year old. He took a sweat test and the result was 106 and then he took a genetic test at Genetic Lab in Bucharest (we live in Constanta). The result of the genetic test was: 1. the following mutations were detected: R553X-F508del, both heterozygous. 2. Polymorphism study: 7T-9T. I asked what does that mean, besides the fact that he has the disease and they told me to see a specialist. We have an appointment with the specialist 2 weeks from now. My question is: are there other tests necessary to confirm/deny the initial diagnosis. Thank you in advance.
- Answer
- Hello,
Unfortunately the informations you provided, confirm without a doubt the diagnosis of cystic fibrosis. Certainly there is no need for additional tests for the diagnosis. For sure he will attend a standardized assessment and treatment program.
Best regards, Prof.dr.Liviu Pop - 26.05.2011
