Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort

In this study, complete screening of CFTR was performed through next-generation sequencing (NGS) to gain insight into the variants circulating in the population of Rio de Janeiro and to provide patient access to treatment through genotype-specific therapies. Samples from 93 patients with an inconclusive molecular diagnosis were subjected to full-length screening of CFTR using an Illumina NGS HiSeq platform. Among these patients, 46 had two pathogenic variants, whereas 12 had only one CFTR variant. Twenty-four variants were not part of our routine screening. Of these 24 variants, V938Gfs∗37 had not been described in the CF databases previously. This research achieved a molecular diagnosis of the patients with CF and identification of possible molecular candidates for genotype-specific treatments.PMID:33613790 | PMC:PMC7878085 | DOI:10.1155/2021/9812074

Source: Disease Markers - February 22, 2021 Category: Laboratory Medicine Authors: Amanda Cambraia Mario Campos Junior Ver ônica Marques Zembrzuski Ricardo Magrani Junqueira Pedro Hern án Cabello Giselda Maria Kalil de Cabello Source Type: research