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Please note: While some information will still be current in a year, other information may already be out of date in three months time.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.
G542X
- Question
- G542X heterozygous mutation and polymorphisms 7T and 9T from a villous biopsy- does this mean a healthy carrier status? (Given that I have a child with the mutations G542X and deltaF508 heterozygous)
- Answer
- Hello,
From your history, the result shows a healthy carrier status of the G542X mutation and polymorphisms 7T and 9T (polymorphism is not associated with disease). If one parent is a carrier of the G542X mutation and the other is a carrier of the mutation del F508; a sick child would have two mutations, consisting in a compund-heterozygous status deltaF508/G542X.
With best regards,
Dr Ioana Ciuca - 29.07.2014
