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Diagnostics
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Advances in Laboratory Markers of Human Disease—2nd Edition
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Advances in Laboratory Markers of Human Disease—2nd Edition

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Laboratory Medicine".

Deadline for manuscript submissions: 30 September 2026 | Viewed by 5785

Editor

Prof. Dr. Mina Hur

E-Mail Website
Guest Editor
Department of Laboratory Medicine, Konkuk University School of Medicine, Seoul 05030, Republic of Korea
Interests: biomarker research; diagnostic hematology; transfusion medicine; molecular genetics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Current clinical practice largely depends on biomarkers, and emerging biomarkers, as well as conventional biomarkers, are widely used for early detection, risk stratification, and prognosis prediction in a variety of human diseases. Advanced research on laboratory biomarkers is also essential in the realm of translational medicine, bridging basic and clinical fields. I invite outstanding researchers to contribute their excellent studies to this Special Issue. The targeted topics include, but are not limited to, research related to laboratory medicine, from genomic or proteomic studies, molecular diagnostics, clinical chemistry, immunology, hematology, and microbiology, as well digitalized and artificial intelligence-related markers. I believe that this broad collection of research will highlight our current understanding and utility of laboratory markers and form the fundamental basis for further advances in laboratory markers of human disease.

Prof. Dr. Mina Hur
Guest Editor

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-anonymized 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

  • laboratory biomarkers
  • genomics
  • proteomics
  • molecular diagnostics
  • clinical chemistry

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Published Papers (6 papers)

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Research

Jump to: Review

18 pages, 4959 KB  
Article
Serum SERPINA3 as a Candidate Non-Invasive Biomarker for Neuromyelitis Optica Spectrum Disorder: Proteomic Discovery and Same-Center Validation
by Ting Xu, Bingqing Han, Guanghui Zheng, Wencan Jiang, Hanyu Zhang and Guojun Zhang
Diagnostics 2026, 16(16), 2660; https://doi.org/10.3390/diagnostics16162660 - 20 Aug 2026
Viewed by 145
Abstract
Background: Diagnostic evaluation of suspected neuromyelitis optica spectrum disorder (NMOSD) integrates AQP4-IgG testing, clinical assessment, neuroimaging, and exclusion of alternative inflammatory demyelinating disorders; nevertheless, some patients remain diagnostically unresolved or may be misclassified as multiple sclerosis (MS) or other disorders. Methods: This single-center [...] Read more.
Background: Diagnostic evaluation of suspected neuromyelitis optica spectrum disorder (NMOSD) integrates AQP4-IgG testing, clinical assessment, neuroimaging, and exclusion of alternative inflammatory demyelinating disorders; nevertheless, some patients remain diagnostically unresolved or may be misclassified as multiple sclerosis (MS) or other disorders. Methods: This single-center retrospective exploratory study analyzed quantitative serum proteomics from 20 patients with MS and 20 with NMOSD. Proteins meeting nominal p < 0.05 together with prespecified fold-change criteria were considered exploratory candidates. VWF, PPBP, and SERPINA3 were subsequently assessed by ELISA in a separate, non-overlapping cohort from the same center, together with routine hematological variables. Results: Among 261 protein entries, 34 met the exploratory nominal threshold and fold-change criteria, but none remained significant after Benjamini–Hochberg correction (lowest q = 0.0734). VWF and PPBP showed no significant differences across the four validation groups. SERPINA3 differed across groups (Kruskal–Wallis H = 44.982, p = 9.34 × 10−10) and was higher in NMOSD than in MS, TBI, and HCs after Holm adjustment (adjusted p = 0.036, 1.49 × 10−9, and 1.13 × 10−5, respectively). In the full ELISA cohort, the AUC was 0.928 for NMOSD versus HC and 0.800 for NMOSD versus MS. In a post hoc sensitivity analysis excluding participants with preceding infection, the NMOSD–MS separation was attenuated. In smaller complete-case analyses, adding an additional laboratory variable to SERPINA3 did not significantly improve apparent discrimination. Conclusions: SERPINA3 is therefore an exploratory adjunctive serum biomarker candidate rather than a stand-alone diagnostic test; prospective external validation in clinically representative cohorts is required. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease—2nd Edition)
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13 pages, 692 KB  
Article
Preliminary Single-Center Evaluation of the Alifax Molecular Mouse Sepsis Panel for Rapid Detection of Bloodstream Pathogens
by Jay Ho Han, Jae Kwon Kim, Jung Ok Kim, Jung Suk Lee and Sungjin Jo
Diagnostics 2026, 16(15), 2369; https://doi.org/10.3390/diagnostics16152369 - 28 Jul 2026
Viewed by 262
Abstract
Background/Objectives: We evaluated the diagnostic performance of the Alifax Molecular Mouse (MM) sepsis panel for rapidly directly detecting pathogens and resistance genes in positive blood culture broths. Methods: In this prospective single-center study, 40 positive blood culture specimens were analyzed using [...] Read more.
Background/Objectives: We evaluated the diagnostic performance of the Alifax Molecular Mouse (MM) sepsis panel for rapidly directly detecting pathogens and resistance genes in positive blood culture broths. Methods: In this prospective single-center study, 40 positive blood culture specimens were analyzed using four MM cartridges targeting Gram-positive and -negative bacteria and major antimicrobial resistance genes. The results were compared with those obtained using the routine microbiological protocol, including organism identification using the MALDI Biotyper system and antimicrobial susceptibility testing using the VITEK 2 and MicroScan WalkAway systems. Additionally, the MM panel results were compared with those obtained using the FilmArray BCID2. Results: Compared with the routine protocol, the MM panel achieved a positive percent agreement (PPA) of 89.5% (34/38; 95% confidence interval [CI], 75.9–95.8%) for bacterial identification, indicating moderate-to-good diagnostic performance. For antimicrobial resistance gene detection, the PPA was 92.1% (35/38; 95% CI, 79.2–97.3%). Compared with the FilmArray BCID2, the overall agreement of the MM panel was 89.4% (34/38) for bacterial identification and 84.2% (32/38) for antimicrobial resistance gene detection. The MM panel generated clinically actionable results within 1 h (mean turnaround time, 55.5 min; 95% CI, 55.1–55.9 min), substantially reducing the turnaround time compared with the conventional microbiological workflow, which requires 1.5–2 days for subculture and automated antimicrobial susceptibility testing. Conclusions: The MM sepsis panel enabled rapid, direct identification of bloodstream pathogens and key antimicrobial resistance markers from positive blood cultures, substantially reducing turnaround time and exhibiting its potential as an adjunct to routine microbiological workflows. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease—2nd Edition)
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12 pages, 1418 KB  
Article
Evaluation of Droplet Digital PCR Assay for the Detection of Microsatellite Instability in Colorectal, Gastric, and Endometrial Cancers
by Yousun Chung, Sujin Oh, Soo Kyung Nam, Hyunji Kim, Cheol Lee, Gyeong Hoon Kang, Hyeon Jeong Oh, Hye Seung Lee and Kyoung Un Park
Diagnostics 2026, 16(10), 1550; https://doi.org/10.3390/diagnostics16101550 - 20 May 2026
Viewed by 2336
Abstract
Background: Microsatellite instability (MSI) is an important biomarker for the diagnosis of Lynch syndrome and for guiding immunotherapy in various solid tumors. Droplet digital PCR (ddPCR) has emerged as a highly sensitive method for detecting MSI, particularly in circulating tumor DNA (ctDNA). [...] Read more.
Background: Microsatellite instability (MSI) is an important biomarker for the diagnosis of Lynch syndrome and for guiding immunotherapy in various solid tumors. Droplet digital PCR (ddPCR) has emerged as a highly sensitive method for detecting MSI, particularly in circulating tumor DNA (ctDNA). This study aimed to evaluate the analytical and clinical performance of a ddPCR assay using three MSI markers (BAT-26, ACVR2A, and DEFB105A/B) in colorectal, gastric, and endometrial cancers. Methods: Formalin-fixed paraffin-embedded (FFPE) samples from 190 patients (83 colorectal, 44 gastric, and 63 endometrial cancers) and 21 plasma samples from patients with metastatic solid tumors were analyzed. MSI status determined by ddPCR was compared with conventional PCR using a pentaplex panel and immunohistochemistry (IHC). Analytical performance, including limit of blank (LoB) and limit of detection (LoD), was evaluated using cell line DNA, and clinical cut-offs were established using receiver operating characteristic analysis. Results: The ddPCR assay demonstrated high analytical sensitivity, with LoD values of 0.075% for BAT-26, 0.1% for ACVR2A, and 0.025% for DEFB105A/B. Using optimized clinical cut-offs, the concordance rate between ddPCR and conventional PCR assays was 98.4% in tissue samples. Marker performance varied by cancer type, with reduced sensitivity observed in endometrial cancer. In plasma samples, MSI-H was detected in 1 of 21 cases (4.8%), and the overall concordance rate with tissue-based MSI status was 94.7%. Conclusions: The ddPCR assay demonstrated high concordance with conventional MSI testing methods and showed potential as a sensitive tool for MSI detection in both tissue and plasma samples. However, optimization of marker panels and establishment of sample-type-specific clinical cut-offs are required, particularly for ctDNA-based analysis. Further large-scale studies are needed to validate the clinical utility of ddPCR for MSI detection and monitoring. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease—2nd Edition)
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15 pages, 8558 KB  
Article
Ensuring HbA1c Accuracy and Variant Detection in Hemoglobin G-Coushatta and Queens Using Variant Mode Analysis
by Yeon Jae Lee, Jong Do Seo, Mi-Hyun Hong, Kyunghoon Lee, Joon Hee Lee, Sun-Hee Jun, Hyung-Doo Park, Junghan Song and Yeo-Min Yun
Diagnostics 2026, 16(9), 1320; https://doi.org/10.3390/diagnostics16091320 - 28 Apr 2026
Viewed by 698
Abstract
Background/Objectives: Glycated hemoglobin (HbA1c) is widely used to monitor glycemic control, but the accuracy and flag detection rates of HbA1c assays can vary in the presence of Hb variants such as Hb G-Coushatta (Coushatta) and Hb Queens (Queens), which are common in [...] Read more.
Background/Objectives: Glycated hemoglobin (HbA1c) is widely used to monitor glycemic control, but the accuracy and flag detection rates of HbA1c assays can vary in the presence of Hb variants such as Hb G-Coushatta (Coushatta) and Hb Queens (Queens), which are common in the Korean population. Methods: We evaluated four HbA1c platforms—Arkray ADAMS HA-8190V (HA-8190V) fast/variant modes; Tosoh HLC-723 G11 (G11) standard/variant modes; Bio-Rad D-100 (D-100); Sebia Capillarys 2 Flex Piercing (Capillarys)—using 33 Hb variant samples (26 Coushatta, 7 Queens). The Roche Tina-quant HbA1c Gen. 3 immunoassay was used as the comparative method. With UPLC-MS/MS used as the reference for variant identification, analytical performance was assessed by calculating mean % differences in HbA1c and evaluating Hb variant flag detection rates. Results: The mean % differences in HbA1c compared to the comparative method were −1.5% and −0.9% for Coushatta and Queens, respectively, with HA-8190V variant mode; −28.4% and −17.6% with HA-8190V fast mode; +33.5% and +2.2% with the G11 variant mode; −28.1% and −14.3% with G11 standard mode; −5.9% and −3.2% with D-100; and +1.0% and −6.2% with Capillarys. For flag detection, rates were 100% and 0% with HA-8190V fast mode; 84.6% and 28.6% with G11 standard mode; and 100% and 100% with all other platforms. Conclusions: Coushatta caused severe underestimation in rapid modes, while Queens hindered automated detection. While variant modes significantly improved detection, they showed platform-dependent accuracy. When Hb variant status is unknown, use of the variant mode is recommended to ensure reliable results. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease—2nd Edition)
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13 pages, 2142 KB  
Article
Shear-Dependent Agreement and Clinical Reclassification of Whole-Blood Viscosity Measurements: A Paired Comparison of Rheovis 2000A and Hemovister
by Jongho Yi, Hong-Geun Jung, Seoung Joon Lee, Tae-Young Kim, Hahn Young Kim, Kyeong Ryong Lee, Hyun Suk Yang and Mina Hur
Diagnostics 2026, 16(8), 1232; https://doi.org/10.3390/diagnostics16081232 - 20 Apr 2026
Viewed by 1067
Abstract
Background/Objectives: Whole-blood viscosity (WBV) is increasingly used in cardiovascular risk assessment; however, inter-device comparability may depend on shear-rate definition. We performed a paired comparison of two scanning capillary viscometers to evaluate shear-dependent analytical agreement and its impact on clinical classification. Methods: [...] Read more.
Background/Objectives: Whole-blood viscosity (WBV) is increasingly used in cardiovascular risk assessment; however, inter-device comparability may depend on shear-rate definition. We performed a paired comparison of two scanning capillary viscometers to evaluate shear-dependent analytical agreement and its impact on clinical classification. Methods: In 300 identical blood samples, WBV was measured using Rheovis 2000A and Hemovister. Systolic WBV was defined at 300 s−1 for both devices (shear-matched), whereas clinically defined diastolic WBV corresponded to 1 s−1 for Rheovis 2000A and 5 s−1 for Hemovister. Agreement was assessed using linear regression and Bland–Altman analysis. Hematocrit tertiles were examined as effect modifiers. Clinical agreement was evaluated using quadratic weighted Cohen’s κ. Results: Across matched shear rates (1000 to 1 s−1), Hemovister yielded consistently higher WBV values than Rheovis 2000A, with statistically significant inter-device differences at all shear levels except 1000 s−1. The magnitude of bias increased progressively as shear rate decreased, reaching −8.34 mPa·s at 1 s−1. Under shear-matched systolic conditions (300 s−1), the mean difference was −0.25 mPa·s (limits of agreement −1.72 to 1.22). In contrast, under clinically defined diastolic conditions (1 vs. 5 s−1), the mean difference was 14.54 mPa·s (3.93 to 25.15), increasing across hematocrit tertiles. Clinical agreement was fair for systolic (κ = 0.31; 95% CI 0.24 to 0.39) and moderate for diastolic WBV (κ = 0.44; 95% CI 0.37 to 0.51). Notably, among samples classified as high by Hemovister, 72.8% (systolic) and 54.0% (diastolic) were reclassified as normal by Rheovis 2000A. Conclusions: Inter-device agreement in WBV measurement is strongly shear-dependent. Although numerical divergence increases at low shear, categorical concordance may remain moderate when device-specific reference thresholds are applied. Harmonization of shear definitions and reference frameworks may therefore be essential for consistent cross-platform interpretation. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease—2nd Edition)
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Review

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25 pages, 5936 KB  
Review
Urinary Extracellular Vesicles Biomarkers in CKD: Clinical Laboratory Translation
by Majdi A. Aljohani
Diagnostics 2026, 16(14), 2181; https://doi.org/10.3390/diagnostics16142181 - 13 Jul 2026
Cited by 1 | Viewed by 667
Abstract
Globally, chronic kidney disease (CKD) is an increasingly prevalent public health challenge. The current kidney function tests, which include serum creatinine, estimated glomerular filtration rate (eGFR), and proteinuria, are highly useful in clinical practice. Nevertheless, they are characterized by substantial limitations that prevent [...] Read more.
Globally, chronic kidney disease (CKD) is an increasingly prevalent public health challenge. The current kidney function tests, which include serum creatinine, estimated glomerular filtration rate (eGFR), and proteinuria, are highly useful in clinical practice. Nevertheless, they are characterized by substantial limitations that prevent the early detection of CKD. In contrast, urinary extracellular vesicles (uEVs) may offer an effective alternative for the diagnosis and monitoring of chronic kidney disease if successfully translated. Urinary extracellular vesicles are a wide range of nanosized membrane vesicles that are excreted by cells that line the nephron and urinary tract. These uEVs contain proteins, lipids, and nucleic acids that reflect the pathophysiological state of their cells of origin. This review summarizes the biological evidence for uEV biomarkers in major CKD entities, including diabetic kidney disease, FSGS, IgA nephropathy, ADPKD, and lupus nephritis. From a clinical laboratory perspective, we critically examine pre-analytical variables, analytical factors and validation requirements aligned with ISO 15189 accreditation. We discuss regulatory pathways and the balance between laboratory-developed tests and commercial IVD platforms. Moreover, we conclude that there is an essential need for reference materials, internal quality control, and external quality assessment. Finally, we outline a practical implementation pathway for transitioning uEV assays from research use to routine diagnostics. If successfully translated, uEV-based assays could facilitate earlier detection of CKD, more precise phenotyping, and personalized therapeutic monitoring. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease—2nd Edition)
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