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Cystic Fibrosis
- Question
- In a MOLECULAR TEST OF MUTATIONS OF ALL CODING REGIONS
OF THE CFTR GENE WITH Next Generation Sequencing that I did, the result was:
In the sent material, no mutation was detected that is associated with a typical Cystic Fibrosis phenotype.
However, in the other findings it was written that the nucleotide change c.2002C>T (p.Arg668Cys) was detected in a heterozygous state.
I would like to know what this means? and if there is a problem in future pregnancies.? - Answer
- The c.2002C>T (p.Arg668Cys) variant is not pathogenic. Its combination with a pathogenic variant does not lead to the appearance of cystic fibrosis.
As long as you have done the full test and this is the only finding, there is no reason to worry about pregnancy.
Best regards,
M. Poulou - 05.03.2025
