As a core center in our region, serving an area from south-east to the south-west of Turkey and dealing with all genetic diseases as well as CF molecular testing since its establishment, our aim within this study is, therefore, to identify how an NBS program for CF can affect the genetic diagnosis center’s status with the increasing numbers of molecular testing methods, from the used techniques to the genotype variation of the CFTR gene. The gene discussed is CFTR; the disease is cystic fibrosis.