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Diagnostics
Special Issues
Opportunities in Laboratory Medicine in the Era of Genetic Testing
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Opportunities in Laboratory Medicine in the Era of Genetic Testing

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

Deadline for manuscript submissions: 30 November 2026 | Viewed by 3490

Special Issue Editor

Dr. Fernanda De-Paris

E-Mail Website
Guest Editor
1. Serviço de Diagnóstico Laboratorial—SDLab, Porto Alegre, Brazil
2. Hospital de Clínicas de Porto Alegre—HCPA, Porto Alegre, Brazil
Interests: molecular biology in the diagnosis of infectious diseases; virology; precision medicine and next-generation sequencing
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are pleased to invite submissions for the upcoming Special Issue, "Opportunities in Laboratory Medicine in the Era of Genetic Testing".

This edition aims to explore how advances in genetic testing are transforming laboratory medicine, offering new possibilities for diagnosis, prognosis, treatment, and personalized healthcare. Topics of interest include, but are not limited to, the following:

  • Integration of genetic testing into routine laboratory workflows;
  • Innovations in molecular diagnostics;
  • Quality assurance and standardization challenges;
  • Ethical and regulatory aspects of genetic data in laboratory medicine;
  • Impact of genetic testing on clinical decision-making.

In laboratory medicine today, nucleic acid-based tests are enabling accurate and timely detection of pathogens, genetic polymorphisms, mutations, and more. This Special Issue seeks to explore the full spectrum of applications for these molecular methods in real-world clinical diagnostics. Papers may cover areas such as infectious disease diagnosis, precision oncology, genetic disorders, and the prevention of cardiovascular and metabolic diseases.

We welcome original research articles, reviews, brief reports, communications, and case reports. Join us in highlighting the evolving role of laboratory medicine in the age of genomics.

We look forward to your contributions!

Dr. Fernanda De-Paris
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-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 medicine
  • genetic testing
  • molecular diagnostics
  • personalized medicine
  • clinical decision-making
  • infectious disease diagnosis
  • precision oncology

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

Published Papers (4 papers)

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Research

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12 pages, 2280 KB  
Article
A Clinical Prediction Model for Bacterial Coinfection in Children with Respiratory Syncytial Virus Infection: A Development and Validation Study
by Di Lian, Jianxing Wei, Dong Wang, Meiling Xie, Chenye Lin and Qiuyu Tang
Diagnostics 2026, 16(3), 403; https://doi.org/10.3390/diagnostics16030403 - 27 Jan 2026
Viewed by 314
Abstract
Objectives: Respiratory syncytial virus (RSV) is a leading cause of hospitalization for acute lower respiratory tract infections (ALRIs) in children, with bacterial coinfection complicating diagnosis and often driving antibiotic overuse. This study aimed to develop and validate a clinical prediction model using common [...] Read more.
Objectives: Respiratory syncytial virus (RSV) is a leading cause of hospitalization for acute lower respiratory tract infections (ALRIs) in children, with bacterial coinfection complicating diagnosis and often driving antibiotic overuse. This study aimed to develop and validate a clinical prediction model using common laboratory biomarkers to enable early, accurate identification of clinically significant bacterial coinfection in children with RSV infection. Methods: A single-center, retrospective cohort study was conducted at Fujian Children’s Hospital, enrolling 518 hospitalized children with RSV infection, which was confirmed via targeted next-generation sequencing (tNGS). Patients were randomly divided into a training set (n = 363) and a test set (n = 155) at a 7:3 ratio. The primary outcome, bacterial coinfection, was defined by a composite reference standard integrating etiological evidence from tNGS with clinical, inflammatory, and imaging data, and adjudicated by a blinded expert panel. LASSO regression identified independent predictors, followed by multivariable logistic regression modeling. Model performance was assessed via discrimination (AUC), calibration (Hosmer–Lemeshow test), and clinical utility (Decision Curve Analysis) in both sets. Results: Neutrophil-to-lymphocyte ratio (NLR), C-reactive protein (CRP), and serum amyloid A (SAA) were selected as predictors. The model achieved an AUC of 0.832 (95% CI: 0.788–0.875) in the training set and 0.811 (95% CI: 0.737–0.885) in the test set, with well-calibrated predictions (p > 0.05). Decision curve analysis demonstrated net clinical benefit across 10–80% threshold probabilities. A nomogram was developed for practical application. Conclusions: This study established a model integrating NLR, CRP, and SAA. It offers a reliable tool for the early detection of bacterial coinfection in RSV-infected children, enabling targeted antibiotic stewardship and improving clinical outcomes. Full article
(This article belongs to the Special Issue Opportunities in Laboratory Medicine in the Era of Genetic Testing)
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17 pages, 1393 KB  
Article
Cellular Immunological Memory T Cells and IL15RA Gene Polymorphism in COVID-19 Vaccinated Individuals from Southern Brazil
by Grazielle Motta Rodrigues, Pâmela Portela da Silva, Maria Clara de Freitas Pinho, Taís da Silveira Fischer, Fernanda de Paris, Fabrício Souza Campos, Arthur Bandeira de Mello Garcia, Lucas Fernandes Jataí, Patricia Ashton-Prolla, Fernanda Sales Luiz Vianna and Clévia Rosset
Diagnostics 2026, 16(1), 89; https://doi.org/10.3390/diagnostics16010089 - 26 Dec 2025
Viewed by 612
Abstract
Background: The development of safe and effective vaccines against SARS-CoV-2 was crucial for controlling COVID-19 and establishing long-lasting immune memory in the population. Methods: This study evaluated cellular immune memory in individuals vaccinated with different regimens in Rio Grande do Sul using flow [...] Read more.
Background: The development of safe and effective vaccines against SARS-CoV-2 was crucial for controlling COVID-19 and establishing long-lasting immune memory in the population. Methods: This study evaluated cellular immune memory in individuals vaccinated with different regimens in Rio Grande do Sul using flow cytometry. Additionally, the rs2228059 polymorphism in the IL15RA gene was genotyped. A total of 62 participants were randomly recruited. Results: A decrease in memory T cell subsets in response to SARS-CoV-2 stimuli was observed in total CD3+, CD4+, and CD8+ T cells. Regarding the timing of the last vaccine dose, 94.4% of participants had received their final COVID-19 vaccination at least two years prior to recruitment. The rs2228059 polymorphism was genotyped in 443 individuals from the Rio Grande do Sul population. Among participants who received the ChAdOx1/ChAdOx1/BNT162b2 vaccination regimen and carried the TT genotype, an increase in CD8+ naive, CD8+ effector and CD4+ naive subsets was observed in stimulated cells. Although preliminary, the results suggest no major differences between vaccination regimens. Conclusions: The progressive reduction in memory T cell counts supports the need for booster doses, which is essential not only in the context of new emerging variants but also especially to maintain adequate cellular immune protection. Full article
(This article belongs to the Special Issue Opportunities in Laboratory Medicine in the Era of Genetic Testing)
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16 pages, 547 KB  
Article
Analytical Validation of the Cxbladder® Triage Plus Assay for Risk Stratification of Hematuria Patients for Urothelial Carcinoma
by Justin C. Harvey, David Fletcher, Charles W. Ellen, Megan Colonval, Jody A. Hazlett, Xin Zhou and Jordan M. Newell
Diagnostics 2025, 15(14), 1739; https://doi.org/10.3390/diagnostics15141739 - 8 Jul 2025
Cited by 2 | Viewed by 1445
Abstract
Background/Objectives: Cxbladder® Triage Plus is a multimodal urinary biomarker assay that combines reverse transcription-quantitative analysis of five mRNA targets and droplet-digital polymerase chain reaction (ddPCR) analysis of six DNA single-nucleotide variants (SNVs) from two genes (fibroblast growth factor receptor 3 ( [...] Read more.
Background/Objectives: Cxbladder® Triage Plus is a multimodal urinary biomarker assay that combines reverse transcription-quantitative analysis of five mRNA targets and droplet-digital polymerase chain reaction (ddPCR) analysis of six DNA single-nucleotide variants (SNVs) from two genes (fibroblast growth factor receptor 3 (FGFR3) and telomerase reverse transcriptase (TERT)) to provide risk stratification for urothelial carcinoma (UC) in patients with hematuria. This study evaluated the analytical validity of Triage Plus. Methods: The development dataset used urine samples from patients with microhematuria or gross hematuria that were previously stabilized with Cxbladder solution. Triage Plus was evaluated for predicted performance, analytical criteria (linearity, sensitivity, specificity, accuracy, and precision), extraction efficiency, and inter-laboratory reproducibility. Results: The development dataset included 987 hematuria samples. Compared with cystoscopy (standard of care), Triage Plus had a predicted sensitivity of 93.6%, specificity of 90.8%, positive predictive value (PPV) of 46.5%, negative predictive value of 99.4%, and test-negative rate of 84.1% (score threshold 0.15); the PPV increased to 74.6% for the 0.54 score threshold. For the individual FGFR3 and TERT SNVs, the limit of detection (analytical sensitivity) was a mutant-to-wild type DNA ratio of 1:440–1:1250 copies/mL. Intra- and inter-assay variance was low, while extraction efficiency was high. All other pre-specified analytical criteria (linearity, specificity, and accuracy) were met. Triage Plus showed good reproducibility (87.9% concordance between laboratories). Conclusions: Cxbladder Triage Plus accurately and reproducibly detected FGFR3 and TERT SNVs and, in combination with mRNA expression, provides a non-invasive, highly sensitive, and reproducible tool that aids in risk stratification of patients with hematuria. Full article
(This article belongs to the Special Issue Opportunities in Laboratory Medicine in the Era of Genetic Testing)
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Other

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11 pages, 1933 KB  
Case Report
Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature
by Zhiqiang Zhang, Dandan Wang, Cong Fang, Linan Xu, Shujing He, Zi Ren, Lei Jia and Xiaoyan Liang
Diagnostics 2025, 15(24), 3097; https://doi.org/10.3390/diagnostics15243097 - 5 Dec 2025
Viewed by 551
Abstract
Background and Clinical Significance: FLNC encodes filamin C, a muscle-scaffolding protein crucial for cardiac integrity. Pathogenic FLNC variants cause diverse cardiomyopathies (hypertrophic, dilated, restrictive, and arrhythmogenic) and myofibrillar myopathies, but their role in congenital cardiac malformations is unclear. Notably, FLNC has not [...] Read more.
Background and Clinical Significance: FLNC encodes filamin C, a muscle-scaffolding protein crucial for cardiac integrity. Pathogenic FLNC variants cause diverse cardiomyopathies (hypertrophic, dilated, restrictive, and arrhythmogenic) and myofibrillar myopathies, but their role in congenital cardiac malformations is unclear. Notably, FLNC has not been implicated in structural defects such as Tetralogy of Fallot (TOF) to date. Case Presentation: Two fetuses from the same family were prenatally diagnosed with TOF via ultrasound. The trio whole-exome sequencing of the second fetus and her parents identified a novel heterozygous truncating FLNC variant (NM_001458.5:c.1453C>T, p.Q485*). Sanger sequencing confirmed the same variant in the earlier TOF fetus. The mother carried the variant but was asymptomatic. In vitro mutagenesis in rat cardiomyocytes showed that the mutant FLNC construct produced markedly reduced FLNC proteins compared to the wild type and did not form abnormal cytoplasmic aggregates. Conclusions: We report on a novel FLNC truncating variant associated with fetal TOF, extending the spectrum of FLNC-related cardiac anomalies. The variable outcomes among variant carriers—from fetal TOF to adult cardiomyopathy or no clinical manifestations—underscore the complex genotype–phenotype correlations of filaminopathy. This case highlights the importance of comprehensive genetic evaluation in families with diverse cardiac phenotypes and suggests that additional genetic factors likely influence phenotypic expression. Full article
(This article belongs to the Special Issue Opportunities in Laboratory Medicine in the Era of Genetic Testing)
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