Molecular Detection of Cystic Fibrosis (CFTR)
Molecular Analysis of Cystic Fibrosis Using Next-Generation Sequencing (NGS)
Next-Generation Sequencing (NGS) technology enables comprehensive molecular analysis of the CFTR gene, identifying a wide spectrum of mutations responsible for Cystic Fibrosis (CF). This approach allows for accurate detection of point mutations, small insertions/deletions, and complex variants, facilitating precise diagnosis, carrier screening, and personalized patient management.
It should be noted that for prenatal testing, according to the European guidelines of the Cystic Fibrosis Network (European Journal of Human Genetics, 2008, 1-15), molecular testing of the parents is recommended first to determine their genetic profile related to cystic fibrosis. Prenatal testing of the fetus is performed only if necessary, accompanied by appropriate genetic counseling.
Sample Type: Peripheral blood, amniotic fluid, chorionic villi
Turnaround Time: 2 weeks