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: 31 January 2026 | Viewed by 576

Special Issue Editor


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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
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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 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 medicine
  • genetic testing
  • molecular diagnostics
  • personalized medicine
  • clinical decision-making
  • infectious disease diagnosis
  • precision oncology

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Published Papers (1 paper)

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Research

16 pages, 547 KiB  
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
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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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