Test Method
The promotor, coding regions of exons 1-24, and flanking intronic sequences of the CFTR gene are analysed using an Ampliseq-for-Illumina next generation sequencing (NGS) custom panel on an Illumina MiSeq instrument.
Analysis may also include Multiplex ligation-dependent probe amplification (MLPA) to detect large-scale insertion or deletion variants (this will incur an additional charge).
A full gene screen of the CFTR gene is aimed at identifying rare CFTR mutations increasing mutation coverage to ~98%.
For CFTR screening of the common 50 CFTR mutations please refer to Cystic Fibrosis: CFTR Genotyping
