Journal of Applied Laboratory Medicine最新文献

{"title":"The Choice of Total Allowable Error Profoundly Affects Sigma Metrics, Quality Goal Index Diagnosis, and Quality Control Strategy.","authors":"Jiang Li","doi":"10.1093/jalm/jfag106","DOIUrl":"10.1093/jalm/jfag106","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1282-1284"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148551081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AI'm Here to Help: Enhancing Laboratory Genetic Counseling with Artificial Intelligence.","authors":"Zöe Powis, Khalida Liaquat, Matthew L Tschirgi","doi":"10.1093/jalm/jfag079","DOIUrl":"10.1093/jalm/jfag079","url":null,"abstract":"<p><strong>Background: </strong>Artificial intelligence (AI) is transforming the fields of genetics and genetic counseling, enhancing both clinical and laboratory practices. The rise of AI technologies has drawn attention to their potential impact on genetic counseling, particularly in patient diagnosis and the counseling processes.</p><p><strong>Content: </strong>In the laboratory, AI plays a critical role in improving communication between laboratory genetic counselors and healthcare providers by automating routine tasks and optimizing workflows. These advancements allow genetic counselors to dedicate more time to addressing complex inquiries, improving genetic test selection, and helping providers interpret genetic test results. As AI continues to integrate into laboratory genetic counseling practice, it presents both opportunities and challenges. At the time of submission, there is a large knowledge gap regarding AI and its application to laboratory genetic counseling, given the lack of published information on this topic.</p><p><strong>Summary: </strong>This article summarizes existing literature, the history and current applications of AI in laboratory genetic counseling, examines its benefits and limitations, and explores future directions for its implementation in the field.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1221-1230"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148206403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Diagnostic Odyssey in a Family with Multiple Osteochondromas.","authors":"Yan Xu, Niu Li, Jian Wang, Yanlin Wang, Shuyuan Li","doi":"10.1093/jalm/jfag038","DOIUrl":"10.1093/jalm/jfag038","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1263-1269"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147533491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Immunoassay Selection on the sFlt-1/PlGF Ratio and Preeclampsia Risk Classification.","authors":"Carla Ramírez, Débora Martínez-Espartosa, Leyre Ruiz, Patricia Fernández-Tomás, Katherin Herrera, Laura Muñoz, Estibaliz Alegre, Álvaro González","doi":"10.1093/jalm/jfag074","DOIUrl":"10.1093/jalm/jfag074","url":null,"abstract":"<p><strong>Background: </strong>The soluble fms-like tyrosine kinase-1/ placental growth factor (sFlt-1/PlGF) ratio is widely used to aid in preeclampsia (PE) prognosis. Many laboratories apply cutoffs derived from the PRediction of short-term Outcome in preGNant wOmen with Suspected preeclampsIa Study (PROGNOSIS) using Elecsys results. However, differences between immunoassays and lack of international standardization introduce variability in sFlt-1/PlGF values and cutoffs, potentially affecting clinical interpretation. This study compared Elecsys and Kryptor immunoassays for sFlt-1 and PlGF and assessed their impact and the best cutoff for their ratio in PE risk classification.</p><p><strong>Methods: </strong>We compared Elecsys and Kryptor immunoassays in 160 samples from pregnant women with suspected PE. Correlation, receiver operating characteristic (ROC) performance (area under the curve [AUC]), and concordance across risk categories (low/intermediate/high) were assessed using Elecsys-based PROGNOSIS study cutoffs and a Kryptor-specific threshold.</p><p><strong>Results: </strong>Kryptor yielded significantly lower PlGF and sFlt-1 concentrations than Elecsys (medians: 103.5 ng/L vs 146.3 ng/L and 3199 ng/L vs 4034 ng/L; both P < 0.001). Conversely, sFlt-1/PlGF ratios were higher with Kryptor (31 vs 25; P < 0.001). Diagnostic accuracy was comparable (AUC: Elecsys 0.809; Kryptor 0.810). Applying Elecsys cutoffs to Kryptor results shifted risk categorization, with Kryptor classifying fewer women as low risk (54.4%) compared with Elecsys (58.2%), and more women as high risk (24.3% vs 18.1%). Overall concordance was high (85%; κ = 0.750), but among Elecsys-classified intermediate-risk samples, Kryptor agreed in only 63.2% and 31.6% were upgraded to high risk, reflecting Kryptor's tendency toward higher ratios.</p><p><strong>Conclusions: </strong>Elecsys and Kryptor show similar discriminative performance; however, immunoassay selection can alter PE risk stratification, particularly for intermediate risk cases. Method-specific thresholds are essential to avoid misclassification and optimize clinical decisions.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1137-1147"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148044179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Large-Scale Study Identifies a TgAb Interference Threshold for Thyroglobulin Immunoassays Using Segmented Regression and Bootstrap Validation.","authors":"Qianhui Liu, Lan You, Heye Lv, Chunying Zhang, Guixing Li","doi":"10.1093/jalm/jfag072","DOIUrl":"10.1093/jalm/jfag072","url":null,"abstract":"<p><strong>Background: </strong>Thyroglobulin (Tg) measurement is key for differentiated thyroid cancer (DTC) follow-up, but anti-Tg antibodies (TgAbs) can interfere with Tg immunoassays and bias Tg interpretation. Current TgAb cutoffs are heterogeneous, and an assay-specific interference threshold is needed.</p><p><strong>Methods: </strong>We analyzed 85 949 euthyroid health-screening records (Roche e801 platform) using segmented linear regression and 1000 bootstrap resamples to estimate a TgAb interference threshold. For external validation, 125 TgAb-positive post-thyroidectomy papillary thyroid carcinoma (PTC) patients were included, and receiver operating characteristic (ROC) analyses were performed. Two ROC analyses were performed: (a) low-TgAb patients without structural recurrence (Group A) vs patients with structural recurrence (Group C), and (b) Groups A + B (no structural recurrence, including persistently elevated TgAb) vs Group C.</p><p><strong>Results: </strong>The population-derived TgAb interference threshold was 48.1 U/mL (95% CI, 45.1-50.6). Above this level, Tg values shifted toward lower ranges with increased distributional asymmetry. In the PTC validation cohort, ROC-derived thresholds were 45.64 U/mL (A vs C) and 50.14 U/mL (A + B vs C), with areas under the curve (AUCs) of 1.00 and 0.8764, supporting internal stability and clinical concordance.</p><p><strong>Conclusion: </strong>On the Roche cobas e801 platform, a TgAb level near 48 U/mL provides a pragmatic interference threshold for Tg immunoassay interpretation. This threshold stratifies Tg interpretability and is concordant with ROC-derived cutoffs from clinically defined comparisons in a TgAb-positive PTC cohort.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1108-1121"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148266599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polymorphonuclear Neutrophil Aggregates.","authors":"Marco P Barros Pinto","doi":"10.1093/jalm/jfag100","DOIUrl":"https://doi.org/10.1093/jalm/jfag100","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":"11 5","pages":"1295-1297"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148889163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commentary on A Diagnostic Odyssey in a Family with Multiple Osteochondromas.","authors":"Benjamin E Kang","doi":"10.1093/jalm/jfag046","DOIUrl":"10.1093/jalm/jfag046","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1269-1270"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147533554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond One-Size-Fits-All: The Case for Duffy Genotype-Specific Absolute Neutrophil Count Assessments.","authors":"Lauren E Merz","doi":"10.1093/jalm/jfag095","DOIUrl":"10.1093/jalm/jfag095","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1005-1008"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148296719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analytical and Clinical Validity of a High-Throughput, Fully Automated Immunoassay for Plasma Neurofilament Light Chain.","authors":"Dusten Unruh, Jeff Todtleben, Kara Johnson, Ben Schlichtmann, Miklos Szabo, Mark Holland, Corey Carlson, Jeremiah Hinson, Scott Levin","doi":"10.1093/jalm/jfag052","DOIUrl":"10.1093/jalm/jfag052","url":null,"abstract":"<p><strong>Background: </strong>Neurofilament light chain (NfL) has emerged as a promising blood-based biomarker for neuroaxonal damage across neurological disorders. Clinical utility has been correlated with disease activity, treatment response, and prognosis. However, routine clinical laboratory implementation requires comprehensive analytical validation to ensure reliability and accuracy.</p><p><strong>Methods: </strong>A fully automated Access NfL research use only (RUO) immunoassay was evaluated on the DxI 9000 Immunoassay Analyzer from Beckman Coulter. Analytical validation in plasma assessed precision, analytical sensitivity, linearity, analytical specificity (interference), calibrator and sample stability, and method comparison to the Quanterix Simoa NfL assay. Clinical validity included comparisons of Alzheimer disease (Ad, N = 20) in plasma and multiple sclerosis (MS, N = 16) in serum, vs healthy controls (N = 20 and N = 23, respectively). Plasma-serum equivalence was validated.</p><p><strong>Results: </strong>The NfL assay met analytical criteria, with precision demonstrating coefficients of variation <3% across runs, a lower limit of quantification of 3.10 pg/mL, linearity with <12% deviation, and <10% interference. Plasma NfL samples remained stable for 18 h at room temperature (<7% difference) and refrigerated (<5%), and through 5 freeze-thaw cycles (<8%). Method comparison yielded high correlation (R2 = 0.981) with positive systematic proportional bias (Passing-Bablok slope = 3.02). Ad patients showed significantly elevated NfL levels (median 49.3 pg/mL, IQR: 28.9-67.8) vs controls (median 29.1 pg/mL, IQR: 22.6-33.8; P = 0.02). MS patients similarly demonstrated higher NfL (median 27.7 pg/mL, IQR: 22.5-50.6) vs controls (median 19.2 pg/mL, IQR: 15.1-25.6; P = 0.003).</p><p><strong>Conclusions: </strong>The high-throughput Access NfL assay demonstrated analytical and clinical validity, supporting implementation in research and clinical laboratories.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1161-1173"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148007075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Benchmarking Institutional Support for Point-of-Care Testing Programs: Scale, Staffing, and Operational Challenges.","authors":"Min Yu, Nam K Tran, Julie L V Shaw, Nicholas E Larkey, Nicole V Tolan, Andrew Szczembara, Leslie J Donato, Robert D Maynard, Adil I Khan","doi":"10.1093/jalm/jfag101","DOIUrl":"10.1093/jalm/jfag101","url":null,"abstract":"<p><strong>Background: </strong>Point-of-care testing (POCT) has expanded rapidly across healthcare systems, increasing both program scale and operational complexity. However, quantitative benchmarking data describing how POCT programs are structured and supported across institutions remain limited.</p><p><strong>Methods: </strong>We conducted a cross-sectional survey to characterize POCT program support, including program scope, staffing, operational practices, governance, and challenges. The survey was distributed electronically through professional networks, and 93 institutional responses were analyzed. Descriptive analyses were performed, and derived metrics, including sites per point-of-care testing coordinator (POCC), were used to evaluate the relationship between program scale and staffing.</p><p><strong>Results: </strong>POCT programs demonstrated substantial variability in scale, with wide ranges in the number of testing sites and operator populations. Adoption spanned multiple test categories, and many institutions reported use of multiple platforms for the same assays. Training, competency assessment, and quality management activities were primarily supported by laboratory staff and POCCs, with documentation frequently partially electronic. Median POCC staffing increased with program size; however, sites per POCC also increased significantly across program scale tiers (Kruskal-Wallis P < 0.001). Governance structures and operational responsibilities varied across institutions, and common challenges included staffing limitations, training and compliance burden, multisite coordination, and IT/connectivity constraints.</p><p><strong>Conclusions: </strong>POCT programs are expanding in scale and complexity, but workforce capacity and governance structures have not scaled proportionally. This mismatch creates a cumulative and multiplicative operational burden. These findings provide benchmarking data to inform scalable staffing models, governance strategies, and infrastructure development for sustainable POCT program management.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1243-1254"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148362371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}