Journal

Splicing Predictions, Splicing Assays, and Variant Classification Using ACMG/AMP Guidelines: Challenges Observed with BRCA1 and BRCA2 Variants

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Clin Chem. 2026 Jan 7:hvaf177. doi: 10.1093/clinchem/hvaf177. Online ahead of print. ABSTRACT BACKGROUND: Germline loss-of-function variants in BRCA1 and BRCA2 are established drivers of hereditary breast and ovarian cancer, often acting through aberrant splicing. However, not all spliceogenic changes are pathogenic, and many variants remain classified as uncertain due to insufficient experimental evidence and challenges … Read more

Towards Clinical Integration of Deep Learning-Based Classification of Urinary Sediment Particles from Digital Microscopy Images: A Prospective Study

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Clin Chem. 2026 Jan 7:hvaf182. doi: 10.1093/clinchem/hvaf182. Online ahead of print. ABSTRACT BACKGROUND: Urinalysis is a standard clinical test that includes the microscopic examination of urinary sediment to identify formed elements. Manual evaluation by laboratory technicians is time-intensive and subject to human error. Automated analysis using digital microscopy images presents a potential alternative. This study … Read more

Copy-Number Profiling and Methylation-Based Tumor Typing during Prenatal Cell-Free DNA Screening

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Clin Chem. 2026 Jan 7:hvaf167. doi: 10.1093/clinchem/hvaf167. Online ahead of print. ABSTRACT BACKGROUND: Prenatal cell-free DNA (cfDNA) screening is primarily designed to detect fetal chromosomal abnormalities, but can also identify aneuploidies derived from other tissues, including cancer. The identification of aneuploidies of unknown origin during prenatal cfDNA screening can lead to time-consuming multistage investigations and … Read more

Secondary use of external quality assessment data – estimating inter-assay variation in LOINC-coded datasetsMichael Vogeseron January 7, 2026 at 11:00 am

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Clin Chem Lab Med. 2026 Jan 8. doi: 10.1515/cclm-2025-1695. Online ahead of print. ABSTRACT The secondary scientific use of routine laboratory data will increasingly rely on LOINC as a semantic standard, particularly within the European Health Data Space (EHDS). LOINC enables the aggregation of large data sets from clinical care for research purposes, particularly in … Read more

Comparison of blood sample quality and test results between robotic and manual venipuncture: a pilot studyRong Wangon January 7, 2026 at 11:00 am

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Clin Chem Lab Med. 2026 Jan 8. doi: 10.1515/cclm-2025-1126. Online ahead of print. ABSTRACT OBJECTIVES: This study aimed to evaluate the feasibility of robotic venipuncture in clinical settings and compare its performance with manual venipuncture in terms of blood specimen quality and test results. METHODS: From March to April 2025, 63 participants (35 females, 28 … Read more

Changing in blood cells for infection detection: “Monocyte distribution width” acts as a key determinant in differentiating localized and blood stream infections​on January 7, 2026 at 11:32 am

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Publication date: 15 February 2026 Source: Clinica Chimica Acta, Volume 582 Author(s): Agostino Ognibene, Maria Lorubbio, Sara Montemerani, Giulio Camarlinghi, Tommaso Novi, Claudia Artini, Eva Maria Parisio, Raffaella Pavani, Danilo Tacconi, Maurizio Zanobetti  

Evaluation of the MAGLUMI non-competitive angiotensin I chemiluminescence immunoassay for measuring renin activity in human plasmaLina Wuon January 6, 2026 at 11:00 am

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Clin Chem Lab Med. 2026 Jan 7. doi: 10.1515/cclm-2025-1361. Online ahead of print. ABSTRACT OBJECTIVES: Plasma renin activity (PRA) measures the rate of renin converting angiotensinogen to angiotensin I in circulation and reflects the function of renin-angiotensin-aldosterone system (RAAS). The study aimed to demonstrate the performance of the MAGLUMI Angiotensin I assay for the measurement … Read more

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