Whole genome sequencing as the ultimate tool to diagnose tuberculosis

Publication date: Available online 24 November 2016 Source:International Journal of Mycobacteriology Author(s): Dick van Soolingen, Rana Jajou, Arnout Mulder, Han de Neeling In the past two decades, DNA techniques have been increasingly used in the laboratory diagnosis of tuberculosis (TB). The (sub) species of the Mycobacterium tuberculosis complex are usually identified using reverse line blot techniques. The resistance is predicted by the detection of mutations in genes associated with resistance. Nevertheless, all cases are still subjected to the cumbersome phenotypic resistance testing. The production of a strain-characteristic DNA fingerprint, to investigate the epidemiology of TB, is done by the 24-locus variable number tandem repeat (VNTR) typing. However, most of the molecular techniques in the diagnosis of TB can eventually be replaced by whole genome sequencing (WGS). Many international TB reference laboratories are currently working on the introduction; however, standardization in the international context is lacking. The European Centre for Infectious Disease Prevention and Control in Stockholm, Sweden is organizing a yearly round of quality control on VNTR typing and in 2015 for the first time on WGS. In this first proficiency study, only three out of eight international TB laboratories produced WGS results in line with those of the reference laboratory. The whole process of DNA isolation, purification, quantification, sequencing, and analysis/interpretati...
Source: International Journal of Mycobacteriology - Category: Infectious Diseases Source Type: research