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Diagnostics
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Advances in Infectious Disease Diagnosis Technologies
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Advances in Infectious Disease Diagnosis Technologies

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

Deadline for manuscript submissions: 30 September 2026 | Viewed by 9991

Special Issue Editors

Dr. Dakai Liu

E-Mail
Guest Editor
Department of Pathology and Clinical Laboratories, NewYork-Presbyterian Queens, 56-45 Main Street Flushing, New York, NY 11355, USA
Interests: COVID; SARS-CoV-2
Dr. Fermina Maria Mazzella

E-Mail Website
Co-Guest Editor
Hospital for Special Surgery, 535 East 70th Street, New York, NY 10021, USA
Interests: clinical pathology; hematology

Special Issue Information

Dear Colleagues,

This Special Issue focuses on cutting-edge advancements in infectious disease diagnostic technologies. It highlights the latest innovations, such as high-throughput sequencing, artificial intelligence, and other transformative tools that are revolutionizing our capacity to detect, identify, and manage infectious diseases. The contributions underscore the critical role of accurate and rapid diagnostics in controlling outbreaks, improving patient outcomes, and strengthening global health security. By bringing together leading experts, this Special Issue aims at addressing the challenges, exploring the opportunities, and outlining future directions in this fast-evolving field through research articles and reviews.

1. High-throughput sequencing

The integration of real-time genomic and epidemiologic surveillance is critical for rapidly diagnosing, tracking, and controlling infectious disease outbreaks.

2. Artificial intelligence

The application of artificial intelligence in the diagnostic field may open up potential possibilities for the automated detection and analysis of infectious diseases.

3. Digital images

High-resolution digital images can aid in analyzing complex diagnostic data quickly, enhancing diagnostic precision.

4. Radiological imaging

Advanced nuclear medicine and proton magnetic resonance spectroscopy could increase the ability to detect and monitor infections.

5. Point-of-care testing

Syndromic and multiplex assays can empower POC testing. The incorporation of artificial intelligence can improve efficiency, accuracy, and accessibility.

Dr. Dakai Liu
Dr. Fermina Maria Mazzella
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • molecular diagnosis
  • biomarkers
  • microbial culture and identification
  • high-throughput sequencing
  • infectious diseases
  • artificial intelligence
  • digital image
  • radiological imaging
  • point-of-care testing

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Published Papers (6 papers)

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Research

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17 pages, 1925 KB  
Article
Simplified Point-of-Care Testing for Human Pythiosis: Development of a Whole-Blood-Based Lateral Flow Immunoassay
by Jidapa Szekely, Kitti Saelai, Sirida Youngchim, Siriporn Chongkae, Pornchanan Chanchay, Wiraphan Rakchang, Paramaporn Rattanaphan and Narongdet Kositpantawong
Diagnostics 2026, 16(5), 652; https://doi.org/10.3390/diagnostics16050652 - 24 Feb 2026
Viewed by 355
Abstract
Background/Objectives: Human pythiosis, caused by Pythium insidiosum, is associated with severe morbidity and high mortality when diagnosis is delayed. Culture-based diagnosis is time-consuming and may be insensitive in clinical specimens, highlighting the need for rapid point-of-care serodiagnostic tools. Here, we developed [...] Read more.
Background/Objectives: Human pythiosis, caused by Pythium insidiosum, is associated with severe morbidity and high mortality when diagnosis is delayed. Culture-based diagnosis is time-consuming and may be insensitive in clinical specimens, highlighting the need for rapid point-of-care serodiagnostic tools. Here, we developed and clinically evaluated the Anti-Pin Antibody Test Strip, a whole-blood-compatible lateral flow immunoassay (LFIA) for detecting anti-P. insidiosum antibodies. Methods: Secretory protein antigens of P. insidiosum were prepared and conjugated to gold nanoparticles for LFIA development. Analytical performance was assessed by determining the limit of detection (LOD) using serial dilutions of pythiosis serum and by evaluating cross-reactivity with sera from patients with other infections. Interference testing examined common anticoagulants and adverse sample conditions (hemolysis, lipidemia, and icterus). Clinical performance was evaluated using 258 serum samples, comprising 48 pythiosis-positive and 210 pythiosis-negative specimens confirmed by immunoblotting and/or culture. Test results were read at 5 min. Results: The assay LOD was a serum titer of 1:1000. No cross-reactivity was observed across the tested infectious and immunologic panels, and no interference was detected from anticoagulants or adverse sample conditions. Whole-blood testing showed no red blood cell interference. In clinical evaluation, sensitivity was 100.00% (48/48), specificity was 95.24% (200/210), and accuracy was 96.12%, with a PPV of 82.76% and an NPV of 100.00%. Conclusions: The Anti-Pin Antibody Test Strip provides rapid (5 min), operationally simple serodiagnosis and may support screening/triage of suspected pythiosis, particularly where laboratory methods are limited. Full article
(This article belongs to the Special Issue Advances in Infectious Disease Diagnosis Technologies)
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10 pages, 649 KB  
Article
Infrequent HPV Infection in Colorectal Neuroendocrine Carcinoma: Molecular and Histologic Characteristics
by Xi Wang, Minghao Zhong, Xuchen Zhang and Yuanxin Liang
Diagnostics 2025, 15(20), 2569; https://doi.org/10.3390/diagnostics15202569 - 12 Oct 2025
Cited by 1 | Viewed by 747
Abstract
Background/Objectives: Colorectal neuroendocrine carcinomas (NECs) are rare, aggressive tumors with poorly defined clinicopathologic and molecular features. Their biological behavior and optimal treatment strategies remain unclear. Additionally, a subset of anorectal NECs may be associated with high-risk human papillomavirus (HPV) infection, suggesting potential [...] Read more.
Background/Objectives: Colorectal neuroendocrine carcinomas (NECs) are rare, aggressive tumors with poorly defined clinicopathologic and molecular features. Their biological behavior and optimal treatment strategies remain unclear. Additionally, a subset of anorectal NECs may be associated with high-risk human papillomavirus (HPV) infection, suggesting potential heterogeneity in pathogenesis. Methods: We retrospectively reviewed 12 cases of colorectal NECs. Clinical outcomes, histologic morphology, immunohistochemistry, molecular profiling, including common oncogenic mutations, and HPV status were analyzed. Results: Seven cases demonstrated small cell NECs, and five showed large cell NECs. The majority of NECs (n = 9) arose in the rectum. TP53 mutations were the most common (75%), followed by KRAS, RB1, FBXW7, and BRAF mutations. One case demonstrated mismatch repair (MMR) deficiency. High-risk HPV was detected in one rectal NEC, which lacked common oncogenic mutations and was the only long-term survivor (54 months). p16 expression did not correlate consistently with HPV in situ hybridization (ISH) status. Among small cell NECs with follow-up, platinum-based chemotherapy resulted in significantly longer survival than FOLFOX (13.5 vs. 4 months, p = 0.0209). Conclusions: Colorectal NECs display histologic and molecular heterogeneity. The tumors of small cell NECs potentially benefit more from platinum-based chemotherapy. HPV-associated NECs may represent a distinct subset with better prognosis, but p16 is not a reliable surrogate marker. Routine subclassification into small vs. large cell types and comprehensive molecular profiling, including HPV testing, may aid clinical decision-making and prognostication. Full article
(This article belongs to the Special Issue Advances in Infectious Disease Diagnosis Technologies)
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13 pages, 822 KB  
Article
Comparative Analysis of RT-PCR and a Colloidal Gold Immunochromatographic Assay for SARS-CoV-2 Detection
by Hui Li, Dakai Liu, Qiang Zhou, George D. Rodriguez, Harlan Pietz, Vishnu Singh, Eric Konadu, Keither K. James, Calvin Lui, Mingyu Shao, Junyu Chen, Andrew Schreiner, Carl Urban, James Truong, Nishant Prasad and William Harry Rodgers
Diagnostics 2025, 15(11), 1362; https://doi.org/10.3390/diagnostics15111362 - 28 May 2025
Cited by 2 | Viewed by 2399
Abstract
Background/Objectives: The COVID-19 pandemic has highlighted the urgent need for rapid, accurate, and accessible diagnostic testing to effectively manage and contain the spread of SARS-CoV-2. RT-PCR is widely recognized as the gold standard for SARS-CoV-2 detection due to its high sensitivity and specificity. [...] Read more.
Background/Objectives: The COVID-19 pandemic has highlighted the urgent need for rapid, accurate, and accessible diagnostic testing to effectively manage and contain the spread of SARS-CoV-2. RT-PCR is widely recognized as the gold standard for SARS-CoV-2 detection due to its high sensitivity and specificity. However, RT-PCR testing requires specialized laboratory equipment, highly trained personnel, and extended processing times, which limits its feasibility for large-scale screening and point-of-care applications. This study aims to systematically evaluate the diagnostic performance of RT-PCR and a colloidal gold immunochromatographic assay (GICA). Methods: By comparing these two methods, we seek to determine a GICA’s effectiveness as a complementary or alternative diagnostic tool, particularly in resource-limited settings and scenarios requiring rapid, large-scale testing. We assessed the following key clinical parameters: sensitivity, specificity, NPV, PPV, and accuracy. Additionally, we investigated the correlation between GICA signal intensity and RT-PCR Ct values using regression analysis, receiver operating characteristic curve analysis, and the calculated area under the curve. Results: Our findings indicate that while RT-PCR exhibits superior sensitivity, GICA results demonstrate a strong correlation with RT-PCR results and provide a rapid, cost-effective alternative for SARS-CoV-2 detection. Unlike RT-PCR, which requires extensive resources and prolonged turnaround times, a GICA delivers results within 20 min, making it a viable option for decentralized testing and real-time public health interventions. Conclusions: These results suggest that a GICA can serve as a complementary diagnostic tool alongside RT-PCR, particularly in resource-limited settings and high-throughput screening scenarios. By integrating GICAs into broader testing strategies, healthcare systems can enhance early detection efforts, improve accessibility to diagnostics, and strengthen pandemic response measures. Full article
(This article belongs to the Special Issue Advances in Infectious Disease Diagnosis Technologies)
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Review

Jump to: Research

32 pages, 396 KB  
Review
Metagenomic and Targeted Next-Generation Sequencing in Infectious Disease Diagnostics: Current Applications, Challenges, and Future Perspectives
by Rong Rong, Yuni Long, Yujing Li, Lanxi Lin, Jie Yang, Ziqi Hu, Dayue Liu and Peisong Chen
Diagnostics 2026, 16(7), 991; https://doi.org/10.3390/diagnostics16070991 - 25 Mar 2026
Viewed by 435
Abstract
Metagenomic and targeted next-generation sequencing (NGS) technologies are rapidly transforming diagnosis and management for infectious diseases. This review comprehensively examines the current applications of metagenomic NGS (mNGS) and targeted NGS (tNGS) in clinical microbiology, highlighting their roles in pathogen detection, antimicrobial resistance profiling, [...] Read more.
Metagenomic and targeted next-generation sequencing (NGS) technologies are rapidly transforming diagnosis and management for infectious diseases. This review comprehensively examines the current applications of metagenomic NGS (mNGS) and targeted NGS (tNGS) in clinical microbiology, highlighting their roles in pathogen detection, antimicrobial resistance profiling, virulence characterization, and outbreak investigation—particularly in complex cases such as pneumonia, critical illness with pulmonary infections, and pediatric acute respiratory illnesses. We discuss the diagnostic performance, advantages, and limitations of these approaches, including challenges related to sensitivity, specificity, standardization, bioinformatic complexity, and cost-effectiveness. Furthermore, we explore emerging opportunities for integrating NGS-based surveillance with public health strategies, such as wastewater epidemiology, to monitor healthcare-associated infections (HAIs) and antimicrobial resistance (AMR) at the population level. Finally, we outline key steps needed to translate these powerful genomic tools from research settings into routine clinical and public health practice. Full article
(This article belongs to the Special Issue Advances in Infectious Disease Diagnosis Technologies)
24 pages, 323 KB  
Review
Molecular Point-of-Care Testing for Respiratory Infections: A Comprehensive Literature Review (2006–2026)
by Ahmed J. Alzahrani
Diagnostics 2026, 16(6), 930; https://doi.org/10.3390/diagnostics16060930 - 20 Mar 2026
Viewed by 545
Abstract
Molecular point-of-care testing (POCT) for respiratory infections has undergone remarkable advancement over the past two decades, driven by technological innovation and urgent clinical needs highlighted by the COVID-19 pandemic. This comprehensive systematic review was conducted following PRISMA 2020 guidelines, synthesizing evidence from 254 [...] Read more.
Molecular point-of-care testing (POCT) for respiratory infections has undergone remarkable advancement over the past two decades, driven by technological innovation and urgent clinical needs highlighted by the COVID-19 pandemic. This comprehensive systematic review was conducted following PRISMA 2020 guidelines, synthesizing evidence from 254 peer-reviewed studies published between 2006 and 2026, with detailed analysis of the 30 most relevant papers selected through a rigorous four-stage screening process. The review examines the evolution of molecular POCT technologies, including reverse transcription polymerase chain reaction (RT-PCR), loop-mediated isothermal amplification (LAMP), recombinase polymerase amplification (RPA), and CRISPR-based detection systems. Key findings demonstrate that modern molecular POCT platforms achieve diagnostic performance comparable to laboratory-based testing, with sensitivities ranging from 88% to 100% and specificities from 98% to 100%, while delivering results in 15 to 80 min. These technologies enable rapid, accurate detection of major respiratory pathogens, including SARS-CoV-2, influenza A/B, respiratory syncytial virus (RSV), and atypical bacteria. The integration of microfluidic systems, portable devices, and smartphone-based analysis has expanded access to testing in resource-limited settings, emergency departments, and wearable platforms. This review provides critical insights for clinicians, researchers, and policymakers regarding the current state, clinical applications, and future directions of molecular POCT for respiratory infections. Full article
(This article belongs to the Special Issue Advances in Infectious Disease Diagnosis Technologies)
20 pages, 1402 KB  
Review
Artificial Intelligence in Infectious Disease Diagnostic Technologies
by Chao Dong, Yujing Liu, Jiaqi Nie, Xinhao Zhang, Fei Yu and Yongfei Zhou
Diagnostics 2025, 15(20), 2602; https://doi.org/10.3390/diagnostics15202602 - 15 Oct 2025
Cited by 2 | Viewed by 3735
Abstract
Artificial intelligence (AI), as an emerging interdisciplinary field dedicated to simulating and extending human intelligence, is increasingly integrating into the domain of infectious disease medicine with unprecedented depth and breadth. This narrative review is based on a systematic literature search in databases such [...] Read more.
Artificial intelligence (AI), as an emerging interdisciplinary field dedicated to simulating and extending human intelligence, is increasingly integrating into the domain of infectious disease medicine with unprecedented depth and breadth. This narrative review is based on a systematic literature search in databases such as PubMed and Web of Science for relevant studies published between 2018 and 2025, with the aim of synthesizing the current landscape. It demonstrates transformative potential, particularly in the realm of diagnostic assistance. Confronting global challenges such as pandemic control, emerging infectious diseases, and antimicrobial resistance, AI technologies offer innovative solutions to these pressing issues. Leveraging its robust capabilities in data mining, pattern recognition, and predictive analytics, AI enhances diagnostic efficiency and accuracy, enables real-time monitoring, and facilitates the early detection and intervention of outbreaks. This narrative review systematically examines the application scenarios of AI within infectious disease diagnostics, based on an analysis of recent literature. It highlights significant technological advances and demonstrated practical outcomes related to high-throughput sequencing (HTS) for pathogen surveillance, AI-driven analysis of digital and radiological images, and AI-enhanced point-of-care testing (POCT). Simultaneously, the review critically analyzes the key challenges and limitations hindering the clinical translation of current AI-based diagnostic technologies. These obstacles include data scarcity and quality constraints, limitations in model generalizability, economic and administrative burdens, as well as regulatory and integration barriers. By synthesizing existing research findings and cataloging essential data resources, this review aims to establish a valuable reference framework to guide future in-depth research, from model development and data sourcing to clinical validation and standardization of AI-assisted infectious disease diagnostics. Full article
(This article belongs to the Special Issue Advances in Infectious Disease Diagnosis Technologies)
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