CFTR Full Gene Sequencing

What is the cystic fibrosis extended mutation test?

This genetic test screens for multiple CFTR gene mutations that cause cystic fibrosis (CF).


Who should get tested?


Individuals with CF symptoms
Couples planning pregnancy (carrier screening)



What do test results mean?


Positive – Presence of CF mutation
Carrier – One mutated gene, no symptoms
Negative – No detected mutations (but rare variants may exist)



Can CF be cured?

There is no cure, but targeted therapies help manage symptoms.