Third-Generation Cytogenetic Analysis

Copy number variants (CNVs) play important roles in the pathogenesis of several genetic syndromes. Traditional and molecular karyotyping are considered the first-tier diagnostic tests to detect macroscopic and cryptic deletions/duplications. However, their time-consuming and laborious experimental protocols protract diagnostic times from 3 to 15 days. Nanopore sequencing has the ability to reduce time to results for the detection of CNVs with the same resolution of current state-of-the-art diagnostic tests.

Source: Journal of Molecular Diagnostics - May 5, 2022 Category: Pathology Authors: Pamela Magini, Alessandra Mingrino, Barbara Gega, Gianluca Mattei, Roberto Semeraro, Davide Bolognini, Patrizia Mongelli, Laura Desiderio, Maria Carla Pittalis, Tommaso Pippucci, Alberto Magi Tags: Technical advance Source Type: research