Comprehensive genetic testing for the CFTR gene using Next-Generation Sequencing (NGS), covering all coding exons and exon–intron boundaries.

Indications:

Suspected Cystic Fibrosis (CF)

CFTR-Related Disorders

Congenital Bilateral Absence of the Vas Deferens (CBAVD)

Recurrent or Chronic Pancreatitis

Carrier Screening and Family Studies

Benefits:

Comprehensive mutation analysis across the entire CFTR gene

Detection of rare and population-specific variants not included in targeted mutation panels

Detailed variant interpretation