Submit to Special Issue Submit Abstract to Special Issue Review for Diagnostics Propose a Special Issue

Journal Menu

Journal Browser

Advances in the Laboratory Diagnosis

Special Issue Editors
Special Issue Information
Keywords
Benefits of Publishing in a Special Issue
Published Papers

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

Deadline for manuscript submissions: 30 November 2025 | Viewed by 11969

Share This Special Issue

Special Issue Editors

Prof. Dr. Giuseppe Lippi

E-Mail Website
Guest Editor

Laboratory Medicine, Clinical Biochemistry, Coagulation, Haematology, Sports Medicine, University of Verona, Verona, Italy
Interests: pre-analytical variability; analytical and clinical validation of biomarkers; proteomics; diagnostics of the acute coronary syndrome; metabolism of lipoproteins and relevant assay methods; frailty; diagnosis and management of disorders of hemostasis

Dr. Camilla Mattiuzzi

E-Mail Website
Guest Editor

Medical Direction, Rovereto Hospital, Provincial Agency for Social and Sanitary Services (APSS), 38068 Rovereto, Italy
Interests: public health; health technology assessment; evaluation of diagnostic techniques; hospital infections; prevention; hygiene

Special Issue Information

Dear Colleagues,

We have the pleasure of guest-editing a Special Issue entitled "Advances in the Laboratory Diagnosis" in collaboration with Diagnostics, an open access journal published by MDPI, Switzerland.

Laboratory medicine is an essential medical discipline, whose contribution to screening, diagnosis, prognosis, and therapeutic management in modern clinical medicine is undeniable. Advances in laboratory diagnostics have recently revolutionized several areas of medicine by enabling more accurate, efficiency, and cost-effective testing. These innovations span several domains, including traditional phenotypic testing, molecular diagnostics, point-of-care testing, digitization, and artificial intelligence (AI)-driven analytics.

This Special Issue welcomes submissions that cover technological and translational aspects of laboratory medicine, which have provided significant advancements in patient care. Submissions can include articles from current original research, experimental methodologies, reviews, perspectives, and letters. We look forward to receiving insightful contributions.

Prof. Dr. Giuseppe Lippi
Dr. Camilla Mattiuzzi
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 100 words) can be sent to the Editorial Office for announcement on this website.

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

laboratory diagnosis
biomarkers
clinical chemistry
laboratory analysis
artificial intelligence

Benefits of Publishing in a Special Issue

Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (9 papers)

Download All Papers

Order results

Result details

Show export options Show export options

Select all

Export citation of selected articles as:

Research

Jump to: Review, Other

18 pages, 2489 KiB

Open AccessArticle

Evaluation of the Biolabo Turbidimetric Assay for Automated Determination of Haemoglobin A1c

by Lorenza Fagnani, Simonetta De Angelis, Pierangelo Bellio, Patrizia Frascaria, Rita Tennina, Giovanni Alloggia, Francesco Gentile, Alessandra Piccirilli, Mariagrazia Perilli and Giuseppe Celenza

Diagnostics 2025, 15(8), 969; https://doi.org/10.3390/diagnostics15080969 - 10 Apr 2025

Viewed by 244

Abstract

Background/Objectives: The determination of glycated haemoglobin (HbA1c) is a cornerstone of the diagnosis and management of diabetes mellitus, serving as a reliable biomarker for assessing long-term glycaemic control. While high-performance liquid chromatography (HPLC) is regarded as the gold standard for HbA1c measurement, its widespread adoption is limited by high costs, operational complexity, and resource requirements. Alternative methodologies, including immunoturbidimetric assays, have garnered interest as practical solutions. This study evaluates the analytical performance of an immunoturbidimetric method for HbA1c determination and its comparability with a validated HPLC method. Methods: The evaluation process was conducted in accordance with the Clinical and Laboratory Standards Institute (CLSI) guidelines. The results from 178 human sample leftovers, covering the medical decision range, were compared with those obtained using the HPLC-based Menarini ADAMS A1c HA-8180T system. The analytical performance regarding repeatability and within-laboratory imprecision was also assessed. The probability risk of misinterpreting the analytical results was also calculated. Results: The Passing–Bablok regression indicated a strong correlation between the two methods, with a slope of 1.00 (95% CI: 1.00 to 1.04). The Bland–Altman analysis confirmed minimal systematic differences, showing a mean bias of −0.07% for NGSP and −0.74 mmol/mol for IFCC, both falling within the predefined total allowable error (ATE) limits. Imprecision studies demonstrated excellent repeatability and intermediate precision, with coefficients of variation (CV) ranging from 0.68% to 2.4% across all levels. The risk assessment of diagnostic misinterpretation indicated minimal deviation from an ideal analytical system, in which the measurement uncertainty was regarded as zero. Conclusions: The findings establish the immunoturbidimetric method as a reliable and cost-effective alternative to HPLC for routine HbA1c determination. Its strong analytical performance, combined with operational efficiency, makes it a valuable tool for laboratories, particularly in resource-limited settings, enhancing access to high-quality diabetes monitoring. Full article

(This article belongs to the Special Issue Advances in the Laboratory Diagnosis)

► Show Figures

Figure 1

11 pages, 2638 KiB

Open AccessArticle

Modified FIB-4 Index in Type 2 Diabetes Mellitus with Steatosis: A Non-Linear Predictive Model for Advanced Hepatic Fibrosis

by Jonghyun Kim, Takanori Ito, Taeang Arai, Masanori Atsukawa, Miwa Kawanaka, Hidenori Toyoda, Takashi Honda, Ming-Lung Yu, Eileen L. Yoon, Dae Won Jun, Kyungjoon Cha and Mindie H. Nguyen

Diagnostics 2024, 14(22), 2500; https://doi.org/10.3390/diagnostics14222500 - 8 Nov 2024

Cited by 1 | Viewed by 1779

Abstract

Background: The Fibrosis-4 (FIB-4) index is widely recommended as a first-tier method for screening advanced hepatic fibrosis; however, its diagnostic performance is known to be suboptimal in patients with Type 2 diabetes mellitus (T2DM). We aim to propose a modified FIB-4, using the parameters of the existing FIB-4, tailored specifically for diabetic patients with metabolic dysfunction-associated steatotic liver disease (MASLD). Methods: A total of 1503 patients who underwent liver biopsy were divided into T2DM (n = 517) and non-T2DM (n = 986) groups. The model was developed using multiple regression analysis in the derivation cohort and validated in the validation cohort. Diagnostic accuracy was evaluated using the area under the receiver operating characteristic (AUC) curves. Results: Among the 1503 individuals, those with T2DM were older, more likely to be male, and had a higher prevalence of advanced hepatic fibrosis (≥F3) compared to non-T2DM individuals. Independent risk factors for advanced fibrosis in T2DM included age, AST, AST/ALT ratio, albumin, triglycerides, and platelet count. The optimized FIB-4 model for T2DM with MASLD (Diabetes Fibrosis Index) demonstrated superior diagnostic accuracy (AUC 0.771) compared to the FIB-4 (AUC 0.735, p = 0.012). The model showed a higher negative predictive value than the original FIB-4 across all age groups in the diabetic group. Conclusions: The newly optimized FIB-4 model for T2DM with MASLD (Diabetes Fibrosis Index), incorporating a non-linear predictive model, improves diagnostic performance (AUC) and the negative predictive value in MASLD with T2DM. Full article

(This article belongs to the Special Issue Advances in the Laboratory Diagnosis)

► Show Figures

Figure 1

11 pages, 1843 KiB

Open AccessArticle

Evaluation of C-C Motif Chemokine Receptor 5 (CCR5) as a Sample Adequacy Control in HPV Molecular Diagnostics

by Ruth C. Njoku, Marianna Martinelli, Chiara Giubbi, Sofia De Marco, Barbara Torsello, Morena d’Avenia, Manuela Sironi, Cristina Bianchi and Clementina E. Cocuzza

Diagnostics 2024, 14(19), 2194; https://doi.org/10.3390/diagnostics14192194 - 30 Sep 2024

Cited by 1 | Viewed by 917

Abstract

Background: Reliable Human Papillomavirus (HPV) testing and genotyping are essential for quality assurance in HPV-based primary screening, disease management and for monitoring the impact of HPV vaccination. The clinical validation of HPV molecular diagnostic assays has significantly contributed to these objectives; however, little emphasis has been placed on assuring sample quality. This study aimed to evaluate the accuracy of sample cellularity assessment using the C-C Motif Chemokine Receptor 5 (CCR5) gene target as a marker of sample adequacy in molecular diagnostics. Methods: Jurkat cell line samples were counted using both a Thoma cell-counting chamber and Fluorescence-Activated Cell Sorting (FACS). Jurkat cell line samples at three different concentrations were subsequently evaluated using the OncoPredict HPV Quality Control (QC) real-time PCR assay, employing CCR5 for molecular cellularity quantification. Results: The cellularity values obtained were comparable across the three different methods for all dilutions of the cell line tested. Conclusions: The results obtained from this study show that CCR5 represents a promising molecular marker for the accurate quantification of sample cellularity, confirming its use as a reliable sample adequacy control, thus reducing the risk of “false-negative” results. Full article

(This article belongs to the Special Issue Advances in the Laboratory Diagnosis)

► Show Figures

Figure 1

14 pages, 1637 KiB

Open AccessArticle

The Role of the Basophil Activation Test in the Diagnosis of Drug-Induced Anaphylaxis

by Maria Czarnobilska, Małgorzata Bulanda, Ewa Czarnobilska, Wojciech Dyga and Marcel Mazur

Diagnostics 2024, 14(18), 2036; https://doi.org/10.3390/diagnostics14182036 - 13 Sep 2024

Cited by 1 | Viewed by 1432

Abstract

The diagnosis of drug-induced anaphylaxis (DIA) is a serious health problem. The Basophil activation test (BAT) is considered a specific in vitro provocation, and compared to in vivo provocation, it is more convenient, cheaper, and safer for the patient. This study aimed to evaluate the usefulness of the BAT in the diagnosis of DIA. This study included 150 patients referred to a reference allergy clinic with suspected drug allergies. All patients underwent a detailed clinical evaluation supplemented with the BAT. Positive BAT results were obtained in two out of 21 patients who were to receive the COVID-19 vaccine. The sensitivity and specificity of the BAT were 40% and 75% for the COVID-19 vaccine, 67% and 58% for DMG PEG 2000, and 100% and 75% for PEG 4000, respectively. Nine out of 34 patients with suspected antibiotic allergies had positive BAT results with 14 different antibiotics. Positive BAT results were also obtained with NSAIDs in two patients and with local anesthetics in three patients. The confirmation of allergy by the BAT improves the safety profile of the diagnostic work-up as it may defer the need for drug provocation, preventing potential anaphylactic reactions. Full article

(This article belongs to the Special Issue Advances in the Laboratory Diagnosis)

► Show Figures

Figure 1

Review

Jump to: Research, Other

14 pages, 269 KiB

Open AccessReview

Exploring the TyG Index and the Homeostasis Model Assessment of Insulin Resistance as Insulin Resistance Markers: Implications for Fibromyalgia Management and Understanding—A Narrative Review

by Amirsaeed Samavarchitehrani, Filiz Mercantepe, Amir Hossein Behnoush and Aleksandra Klisic

Diagnostics 2025, 15(4), 494; https://doi.org/10.3390/diagnostics15040494 - 18 Feb 2025

Viewed by 675

Abstract

Fibromyalgia (FM) is a chronic musculoskeletal disease with a higher prevalence among women. To date, there has been no definitive laboratory or imaging assessment for FM, and hence, the diagnosis criteria for FM remained based on subjective assessment of symptoms with high overlap with other rheumatological disorders. Many patients with FM suffer from metabolic disorders leading to insulin resistance (IR). There have been several methods to assess IR, among which the Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) and the triglyceride–glucose (TyG) index have been used more frequently, with the latter being more available and cost-effective. As higher IR has been reported for patients with FM with various mechanisms, in this review, we sought to investigate the association between IR and FM using the current evidence. One of the possible underlying mechanisms of this association might be mitochondrial dysfunction and oxidative stress observed in IR conditions and its role in FM. Studies have also shown that IR indices are higher in patients with FM, compared to healthy controls, while higher HOMA-IR levels were also reported for higher severities of FM based on Fibromyalgia Impact Questionnaire—Revised (FIQR) scores. While these findings suggest the possible involvement of IR in FM pathophysiology and add to the value of IR measurement in FM clinical assessment, further large-scale studies are needed to establish a definitive causal association between them. Full article

(This article belongs to the Special Issue Advances in the Laboratory Diagnosis)

► Show Figures

Graphical abstract

9 pages, 227 KiB

Open AccessReview

Defining Global Thresholds for Serum Ferritin: A Challenging Mission in Establishing the Iron Deficiency Diagnosis in This Era of Striving for Health Equity

by Rodolfo Delfini Cancado, Lauro Augusto Caetano Leite and Manuel Muñoz

Diagnostics 2025, 15(3), 289; https://doi.org/10.3390/diagnostics15030289 - 26 Jan 2025

Viewed by 977

Abstract

Iron deficiency (ID) is a critical public health issue globally and the most prevalent cause of anemia. Iron deficiency anemia (IDA) affects approximately 1.2 billion individuals worldwide, and it is estimated that non-anemic iron deficiency (NAID) is at least twice as common as IDA. Yet, there is still uncertainty about how to diagnose it in clinical practice. The serum ferritin (SF) threshold of <15 ng/mL proposed by the World Health Organization (WHO) has been questioned over the last decade. The current SF thresholds are inappropriately low, and, therefore, a large portion of the population at the most significant risk of ID remain undiagnosed and untreated. The correlation between SF, hepcidin, and the physiological upregulation of iron absorption in healthy adults suggests that SF of <50 ng/mL indicates a more precise threshold for diagnosing ID in adults. Therefore, adopting the SF threshold <50 ng/mL would break up the perpetuation of an inequitable cycle of disadvantage for ID individuals, especially among women. Full article

(This article belongs to the Special Issue Advances in the Laboratory Diagnosis)

19 pages, 1216 KiB

Open AccessReview

Innovative Diagnostic Solutions in Hemostasis

by Emmanuel J. Favaloro and Leonardo Pasalic

Diagnostics 2024, 14(22), 2521; https://doi.org/10.3390/diagnostics14222521 - 11 Nov 2024

Cited by 3 | Viewed by 1876

Abstract

Hemostasis describes the process of blood clotting homeostasis. Hemostasis reflects a balance of procoagulant and anticoagulant mechanisms that aim to prevent both bleeding and thrombosis. If hemostasis is disrupted, and bleeding or thrombosis occur, then laboratory testing may ensue to either diagnose the reason for bleeding or thrombosis, or to manage patients under therapy or treatment for bleeding or thrombosis. A wide range of tests of hemostasis are available to laboratories and to clinicians, from routine coagulation assays to specialized hemostasis assays and platelet function. In the current narrative review, we highlight some of the history of innovative diagnostic solutions, such as the integration of chemiluminescence and flow cytometry in the hemostasis diagnostic armamentarium, as well as providing a glimpse to the possible future of diagnostic hemostasis testing. Future directions include the potential for artificial intelligence in diagnostics, the development of more global test systems that can assess both primary and secondary hemostasis, and several innovations to enable the ongoing evolution of therapies to rebalance hemostasis and requiring precise monitoring. This review underscores the ongoing need for innovation to enhance the diagnostic landscape of hemostasis, ensuring better patient outcomes through more accurate and efficient diagnostic methods. Full article

(This article belongs to the Special Issue Advances in the Laboratory Diagnosis)

► Show Figures

Figure 1

11 pages, 404 KiB

Open AccessReview

Emerging Role of Natriuretic Peptides in Diabetes Care: A Brief Review of Pertinent Recent Literature

by Dipti Tiwari and Tar Choon Aw

Diagnostics 2024, 14(19), 2251; https://doi.org/10.3390/diagnostics14192251 - 9 Oct 2024

Cited by 1 | Viewed by 1393

Abstract

Diabetes markedly increases susceptibility to adverse cardiovascular events, including heart failure (HF), leading to heightened morbidity and mortality rates. Elevated levels of natriuretic peptides (NPs), notably B-type natriuretic peptide (BNP) and N-terminal-proBNP (NT-proBNP), correlate with cardiac structural and functional abnormalities, aiding in risk stratification and treatment strategies in individuals with diabetes. This article reviews the intricate relationship between diabetes and HF, emphasizing the role of NPs in risk assessment and guiding therapeutic strategies, particularly in individuals with type 2 diabetes mellitus (T2DM). We also explore the analytical and clinical considerations in the use of natriuretic peptide testing and the challenges and prospects of natriuretic-peptide-guided therapy in managing cardiovascular risk in patients with diabetes. We conclude with some reflections on future prospects for NPs. Full article

(This article belongs to the Special Issue Advances in the Laboratory Diagnosis)

► Show Figures

Figure 1

Other

Jump to: Research, Review

12 pages, 442 KiB

Open AccessPerspective

Update on Patient Self-Testing with Portable and Wearable Devices: Advantages and Limitations

by Giuseppe Lippi, Laura Pighi and Camilla Mattiuzzi

Diagnostics 2024, 14(18), 2037; https://doi.org/10.3390/diagnostics14182037 - 13 Sep 2024

Cited by 1 | Viewed by 2132

Abstract

Laboratory medicine has undergone a deep and multifaceted revolution in the course of human history, in both organizational and technical terms. Over the past century, there has been a growing recognition of the need to centralize numerous diagnostic activities, often similar or identical but located in different clinical departments, into a common environment (i.e., the medical laboratory service), followed by a progressive centralization of tests from smaller laboratories into larger diagnostic facilities. Nevertheless, the numerous technological advances that emerged at the beginning of the new millennium have helped to create a new testing culture characterized by a countervailing trend of decentralization of some tests closer to patients and caregivers. The forces that have driven this (centripetal) counter-revolution essentially include a few key concepts, namely “home testing”, “portable or even wearable devices” and “remote patient monitoring”. By their very nature, laboratory medical services and remote patient testing/monitoring are not contradictory, but may well coexist, with the choice of one or the other depending on the demographic and clinical characteristics of the patient, the type of analytical procedure and the logistics and local organization of the care system. Therefore, this article aims to provide a general overview of patient self-testing, with a particular focus on portable and wearable (including implantable) devices. Full article

(This article belongs to the Special Issue Advances in the Laboratory Diagnosis)

► Show Figures

Journal Menu

Journal Browser

Advances in the Laboratory Diagnosis

Share This Special Issue

Special Issue Editors

Special Issue Information

Keywords

Benefits of Publishing in a Special Issue

Published Papers (9 papers)

Research

Review

Other

Further Information

Guidelines

MDPI Initiatives

Follow MDPI