Molecular Techniques in Infectious Disease Diagnosis: Advances and Applications

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Diagnostic Microbiology and Infectious Disease".

Deadline for manuscript submissions: 31 March 2026 | Viewed by 561

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Guest Editor
Department of Laboratory Medicine, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080, China
Interests: laboratory medicine; precision medicine; risk prediction; clinical biomarkers
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Special Issue Information

Dear Colleagues,

The rapid evolution of molecular diagnostics has revolutionized the detection, characterization, and monitoring of infectious diseases. This Diagnostics Special Issue focuses on cutting-edge molecular techniques—such as PCR, next-generation sequencing (NGS), CRISPR-based assays, and multiplex platforms—that enhance diagnostic accuracy, speed, and scalability. We invite original research, reviews, and case studies that address novel biomarkers, point-of-care testing, antimicrobial resistance profiling, and emerging pathogen surveillance. Topics of interest include, but are not limited to, the following: high-throughput diagnostics, metagenomics for pathogen discovery, AI-driven interpretation of molecular data, and cost-effective strategies for global health settings. By compiling advancements in this dynamic field, we aim to foster innovation and improve clinical outcomes. Researchers and clinicians are encouraged to contribute their insights to this timely collection, shaping the future of infectious disease diagnostics.

Prof. Dr. Peisong Chen
Guest Editor

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Keywords

  • molecular diagnostics
  • PCR
  • NGS
  • CRISPR
  • antimicrobial resistance
  • point-of-care testing
  • metagenomics
  • pathogen detection

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Published Papers (1 paper)

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Research

11 pages, 714 KB  
Article
Active Microbiological Surveillance for Contrasting Multi-Drug-Resistant Pathogens: Comparison Between a Multiplex Real-Time PCR Method and Culture
by Gaetano Maugeri, Maddalena Calvo, Guido Scalia and Stefania Stefani
Diagnostics 2025, 15(17), 2128; https://doi.org/10.3390/diagnostics15172128 - 22 Aug 2025
Viewed by 366
Abstract
Background/Objectives. Multi-drug-resistant (MDR) microorganisms pose a significant challenge in healthcare settings, particularly with beta-lactam-resistant Gram-negative bacteria and glycopeptide-resistant enterococci. Culture represents the most reliable technique in determining their presence within surveillance swabs. However, it requires a long time-to-result (TTR) and shows low [...] Read more.
Background/Objectives. Multi-drug-resistant (MDR) microorganisms pose a significant challenge in healthcare settings, particularly with beta-lactam-resistant Gram-negative bacteria and glycopeptide-resistant enterococci. Culture represents the most reliable technique in determining their presence within surveillance swabs. However, it requires a long time-to-result (TTR) and shows low sensitivity. Molecular techniques integrate diagnostic procedures, allowing TTR reduction and precise identification of genes. Methods. During our usual surveillance campaign, we had the opportunity to evaluate the Allplex Entero-DR assay (Seegene Inc., Seoul, Republic of Korea) and the Entero-DR Plus assay (Arrow Diagnostics srl, Genova, Italy) molecular kits for the detection of extended-β-lactamases (ESBL), carbapenem- and vancomycin-resistant genes, as well as Acinetobacter spp. and Pseudomonas aeruginosa spp. identification directly from rectal swabs. A comparison between these tests and the culture-based routine completed the study. Results. The analysis included 300 rectal swabs from the University Hospital Policlinico (Catania, Italy). One hundred and eighty-eight samples (62.6%) resulted as positive for at least one Allplex™ target, reaching optimal sensitivity and negative predictive value (100%). Our results underlined the ubiquitous blaCTX-M and van genes presence and demonstrated the diffusion of double-carbapenemases genes and metallo-β-lactamases-producing strains. In our epidemiological setting, few data were collected about carbapenem-resistant P. aeruginosa and Acinetobacter spp., which require further evaluations on simultaneous respiratory colonization and higher sample numbers. Conclusions. Our analysis highlighted the importance of combining conventional and advanced diagnostic methods in investigating MDR pathogens. The right approach should be based on the prevalence and variability of resistance mechanisms within a specific epidemiological area. Remarkably, molecular screenings may exclude negative samples within high-risk areas due to a significant negative predictive value. Full article
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