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Diagnostics
Special Issues
Exploring the Role of Diagnostic Biochemistry, 2nd Edition
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Exploring the Role of Diagnostic Biochemistry, 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 April 2026 | Viewed by 11415

Special Issue Editors

Prof. Dr. Daria Pašalić

E-Mail Website
Guest Editor
Department of Medical Chemistry, Biochemistry and Clinical Chemistry, Zagreb University School of Medicine, 10000 Zagreb, Croatia
Interests: clinical biochemistry; molecular diagnostics; genetics; epigenetics
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Lidija Bilic-Zulle

E-Mail Website
Guest Editor
Clinical Department of Laboratory Diagnosis, Clinical Hospital Center Rijeka, 51000 Rijeka, Croatia
Interests: clinical biochemistry; health informatics; clinical laboratory science; laboratory analysis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,
The first edition of this Special Issue summarized current knowledge regarding the role of diagnostic biochemistry. Many interesting studies have provided new insights into clinical medicine. However, further studies are required, which prompted our decision to open submissions for the second edition of this Special Issue.

Biochemical testing is used in clinical medicine to obtain biochemical information in the treatment of patients. Information can only be used effectively in clinical decision making if it is accurate and appropriate and the physician recognizes its importance. Among other types of diagnostics, laboratory tests are included in almost 80% of clinical decisions. Therefore, patient safety must be ensured when performing these tests, with every effort made to avoid potential mistakes across the entire testing process. Biochemistry is therefore essential in the diagnosis and management of different disorders.

Prof. Dr. Daria Pašalić
Prof. Dr. Lidija Bilic-Zulle
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

  •  laboratory tests in diagnosis, prognosis, monitoring, and treatment
  •  blood biomarkers in laboratory medicine
  •  extravascular body fluid biomarkers in laboratory medicine
  •  novel biomarkers in clinical biochemistry
  •  evidence-based laboratory medicine
  •  extra analytical phases and patient safety
  •  quality assurance and management in laboratory medicine

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Published Papers (4 papers)

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Research

13 pages, 684 KB  
Article
The Application of the NGS and MLPA Methods in the Molecular Diagnostics of Lynch Syndrome
by Ivana Rako, Ema Vinceljak, Marina Popovic and Tamara Zigman
Diagnostics 2025, 15(23), 2950; https://doi.org/10.3390/diagnostics15232950 - 21 Nov 2025
Cited by 1 | Viewed by 1032
Abstract
Background: Lynch syndrome (LS) is a cancer-susceptibility syndrome associated with autosomal dominant predisposition to a spectrum of cancers, primarily of the colorectum and endometrium, which exhibit impaired DNA mismatch repair (MMR) activity. LS is caused by a hereditary (germline) pathogenic (PV) or [...] Read more.
Background: Lynch syndrome (LS) is a cancer-susceptibility syndrome associated with autosomal dominant predisposition to a spectrum of cancers, primarily of the colorectum and endometrium, which exhibit impaired DNA mismatch repair (MMR) activity. LS is caused by a hereditary (germline) pathogenic (PV) or likely pathogenic variant (LPV) in one of the mismatch repair (MMR) genes—MLH1, MSH2, MSH6, PMS2, or EPCAM. Although point mutations are the most common genetic changes in MMR genes, >20% are large genomic rearrangements. We hypothesized that a two-tier diagnostic strategy for Lynch syndrome (LS) using next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) can increase diagnostic yield of patients with Lynch syndrome. Methods: This study included 60 patients suspected of LS. After genetic counseling, they were referred to genetic testing. Genomic DNA was extracted from peripheral blood and sequenced using NGS multigene panel testing covering 113 cancer susceptibility genes, including MMR genes. Regarding limitations of NGS analysis, which cannot reliably detect genomic alterations larger than 50 base pairs in length, the MLPA method was used for NGS negative DNA samples in order to identify larger deletions and duplications, commonly referred to as copy number variations (CNVs). Results: Different PVs were detected by NGS in 10 patients and CNVs were detected by MLPA in 7 more patients: 3xMLH1 del ex9-15, 2xMSH2 del ex1 and upstream, 1xMSH2 del ex9, and 1xMSH2 del ex1. We did not detect LPVs or variants of uncertain significance (VUS). In our cohort, the addition of MLPA provided an incremental yield of seven pathogenic CNVs, representing an 11.6% absolute increase in diagnostic sensitivity (from 16.7% to 28.3%) over the NGS-alone workflow, with CNVs accounting for 41% of all pathogenic findings. Conclusions: Our results show that MLPA is a very useful method in molecular diagnostics of LS and its implementation in routine genetic testing in combination with NGS using multigene panel testing would benefit both patients and health care providers. Full article
(This article belongs to the Special Issue Exploring the Role of Diagnostic Biochemistry, 2nd Edition)
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20 pages, 710 KB  
Article
Common Methylenetetrahydrofolate Reductase Polymorphism MTHFR 677C>T (rs1801133), Plasma Homocysteine, and Non-Valvular Atrial Fibrillation in Overweight/Obese Patients: Causality Indicated by Mediation and One-Sample Mendelian Randomization Analysis
by Rea Levicki, Vladimir Trkulja, Vedran Pašara, Ivan Prepolec, Martina Matovinović, Lana Ganoci, Dragana Šegulja, Martina Lovrić Benčić and Tamara Božina
Diagnostics 2025, 15(22), 2870; https://doi.org/10.3390/diagnostics15222870 - 12 Nov 2025
Viewed by 709
Abstract
Background/Objectives: The causal role of homocysteine (tHcy) in atrial fibrillation (AF) is unclear. To (re)explore the causal effect of tHcy in non-valvular AF (NVAF). Methods: In a case–control study in overweight/obese adults, cases were patients with NVAF and controls were their [...] Read more.
Background/Objectives: The causal role of homocysteine (tHcy) in atrial fibrillation (AF) is unclear. To (re)explore the causal effect of tHcy in non-valvular AF (NVAF). Methods: In a case–control study in overweight/obese adults, cases were patients with NVAF and controls were their peers without AF. They were assessed for clinical, laboratory, and echocardiographic particulars and were genotyped for MTHFR 677C>T (rs1801133), PITX2 C>T (rs2200733), and KCNE1 112A>G (rs1805127) polymorphisms. We employed a conventional case–control, mediation analysis, and one-sample Mendelian randomization (MR) analyses to evaluate forward and reverse tHcy-NVAF associations. Results: We enrolled 180 cases and 179 controls. With an extensive confounder control (i) the MTHFR 677C>T variant allele associated with higher tHcy; (ii) PITX2 C>T variant allele associated with NVAF while KCNE1 112A>G did not; (iii) MTHFR variant associated with NVAF indirectly, through tHcy assuming wild type but not variant genotype (exposure–mediator interaction); (iv) considering all subjects, tHcy associated with NVAF through the effect on renal function and NT-proBNP levels (no exposure–mediator interaction); (v) considering MTHFR wild-type subjects (n = 160), tHcy “directly” strongly associated with NVAF, and considering variant carriers (n = 199), it indirectly associated with NVAF and directly tended to associate with a lower probability of NVAF; (vi) in MR analysis (MTHFR SNP instrument), tHcy associated with NVAF; and vii) mediation and MR analyses [PITX2 SNP (exposure/instrument)—NVAF, (mediator/exposure)—tHcy outcome] excluded the reverse tHcy-NVAF association. Conclusions: Data strongly support the causal role of tHcy in NVAF in overweight/obese patients and suggest that the effect might be modified by the MTHFR 677C>T variant allele. Full article
(This article belongs to the Special Issue Exploring the Role of Diagnostic Biochemistry, 2nd Edition)
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18 pages, 1552 KB  
Article
Comparative Evaluation of 24 LDL-C Estimation Equations Against Direct Assays in Two Independent Cohorts
by Imola Györfi, Oana Roxana Oprea, Ion Bogdan Mănescu, Antoanela Curici and Minodora Dobreanu
Diagnostics 2025, 15(18), 2298; https://doi.org/10.3390/diagnostics15182298 - 10 Sep 2025
Cited by 1 | Viewed by 3240
Abstract
Background: Low-density lipoprotein cholesterol (LDL-C) is essential in diagnosing and managing dyslipidemias. While direct assays are faster than the reference beta-quantification method, many labs continue using the Friedewald (FW) equation, despite its limitations. Methods: Two large datasets were analyzed: 10,174 hospital samples (Cobas/Roche) [...] Read more.
Background: Low-density lipoprotein cholesterol (LDL-C) is essential in diagnosing and managing dyslipidemias. While direct assays are faster than the reference beta-quantification method, many labs continue using the Friedewald (FW) equation, despite its limitations. Methods: Two large datasets were analyzed: 10,174 hospital samples (Cobas/Roche) and 21,091 private lab samples (Alinity/Abbott). Various literature-based LDL-C equations were compared, focusing on FW, Sampson (SN), and Martin–Hopkins (MH). Direct LDL-C served as the reference. Evaluation metrics included bias and classification accuracy. Results: In samples with triglycerides < 400 mg/dL, several lesser-known equations showed acceptable bias (±5%), outperforming FW, SN, and MH, which had biases from −7.4% to −4.9%. Classification accuracy was higher with equations like Vujovic (up to 82.5%), compared to FW (65.8%), SN (73.1%), and MH (72.4%). The Vujovic equation showed minimal bias across triglyceride levels and the highest net gain in correct classification (3.4% and 1.57%). Conclusions: Multiple lesser-known LDL-C formulas outperformed widely used ones. The Vujovic equation yielded the best results, but the limited net clinical improvement suggests that replacing Friedewald may not be urgently necessary. Full article
(This article belongs to the Special Issue Exploring the Role of Diagnostic Biochemistry, 2nd Edition)
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14 pages, 239 KB  
Article
Reference Intervals for Common Biochemistry and Hematology Parameters in Early Pregnancy—A Prospective Study
by Vesna Šupak-Smolčić, Lucija Franin, Dragana Antončić, Sabina Matejčić, Iva Vrdoljak-Colo, Sonja Homar, Mihovil Horvat and Lidija Bilić-Zulle
Diagnostics 2025, 15(4), 415; https://doi.org/10.3390/diagnostics15040415 - 8 Feb 2025
Cited by 2 | Viewed by 5796
Abstract
Background: The aim of this study was the determination of reference values for the common laboratory parameters in early pregnancy using a direct method and to assess their clinically significant difference, which was compared to the reference intervals for non-pregnant women with [...] Read more.
Background: The aim of this study was the determination of reference values for the common laboratory parameters in early pregnancy using a direct method and to assess their clinically significant difference, which was compared to the reference intervals for non-pregnant women with respect to the reference change value (RCV). Methods: This study was conducted from September 2022 to December 2023 at the Clinical Department of Laboratory Diagnostics, Clinical Hospital Centre RIJEKA, Croatia. The inclusion criteria were as follows: age ≥ 18 years, singleton pregnancy, normal ultrasound examination, and prenatal screening. The exclusion criteria were as follows: recent illness, pregnancy-related complications, medically assisted reproduction, and medication use. The reference intervals were established using the non-parametric percentile method according to the CLSI EP28-A3c recommendation. The reference values were compared to those of non-pregnant women and judged against RCV values based on biological variation. Additionally, we tested the influence of food consumption and oral supplements. Results: The data of 299 participants were included in the study. Laboratory tests whose changes are clinically relevant lower in early pregnancy are as follows: hemoglobin, MCV, hematocrit, MCH, urea, creatinine, albumin, alkaline phosphatase, lactate dehydrogenase, sodium, and magnesium. The clinically relevant higher values are as follows: RDW, total leukocyte count, neutrophil granulocytes, monocytes, CRP, total cholesterol, triglycerides, and amylase. UIBC has a wider reference range. The consumption of food and supplements has no clinically significant influence in relation to the RCV. Conclusions: Establishing reference intervals in pregnancy remains a challenge due to the metabolic changes during pregnancy, as well as its clinical significance. Full article
(This article belongs to the Special Issue Exploring the Role of Diagnostic Biochemistry, 2nd Edition)
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