Practical Laboratory Medicine最新文献

{"title":"A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome","authors":"Yunqing Ma ,&nbsp;ShianPin Hu ,&nbsp;Rui Ni ,&nbsp;Wei Liu ,&nbsp;Andrew Fu ,&nbsp;Michael Sha ,&nbsp;Aiguo Zhang ,&nbsp;Chuanyi M. Lu","doi":"10.1016/j.plabm.2024.e00380","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00380","url":null,"abstract":"<div><h3>Objectives</h3><p>Patients with VEXAS syndrome carry mutations of UBA1 gene coding for the E1 enzyme. The three most frequent mutations are p.M41T(122T &gt; C), p.M41V (c.121A &gt; G), and p.M41L (c.121A &gt; C) in codon 41 of exon 3. Currently, sanger sequencing was mainly used to detect these mutations, which has low sensitivity and low throughput. There is a need of high sensitivity, simple and high throughput method to characterize patients with VEXAS syndrome.</p></div><div><h3>Methods</h3><p>Based on our proprietary XNA technology, we have developed a QClamp® Plex platform to detect eight mutations in a single reaction using the Luminex xMap technology. The assay sensitivity, specificity and precision were subsequently evaluated. Furthermore, the reference interval and clinical sensitivity/specificity were estimated using clinical healthy/positive DNA samples and the sanger sequencing method was used for comparison.</p></div><div><h3>Results</h3><p>With spiking synthetic mutant DNA in wildtype GM24385 cell line DNA, this assay can detect <em>UBA1</em> mutations with a detection limit of variant allele frequency (VAF) at 0.1–5%. Our assay shows 100% concordance with Sanger sequencing results when used for analyzing 15 positive and 19 negative clinical samples.</p></div><div><h3>Conclusions</h3><p>The QClamps® Plex <em>UBA1</em> Mutation Detection Assay is a quicker, simpler, and more sensitive assay that can accurately detect the <em>UBA1</em> mutations even at early stages with low mutation frequency.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00380"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S235255172400026X/pdfft?md5=18a5232c2069b2784ffcf90581aad19d&pid=1-s2.0-S235255172400026X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140000361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Compound heterozygous with Hb G-Taipei and Hb Lepore-Boston-Washington: An unexpected finding triggered by HbA1c measurement","authors":"Yu Li ,&nbsp;Anping Xu ,&nbsp;Juan He ,&nbsp;Limin Huang ,&nbsp;Li Lin ,&nbsp;Jie Li ,&nbsp;Yong Xia ,&nbsp;Ling Ji","doi":"10.1016/j.plabm.2024.e00379","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00379","url":null,"abstract":"<div><h3>Background</h3><p>Hemoglobin A1c has been widely used to diagnose and monitor diabetes. However, the accuracy of HbA_1c analysis can be significantly affected by hemoglobin variants, leading to falsely low or elevated levels and misdiagnosis or inappropriate diabetes management.</p></div><div><h3>Case report</h3><p>In this study, we present the case of a 23-year-old man with undetectable HbA_1c levels during his annual checkup by high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). To investigate the reason for HbA_1c absence, Sanger sequencing, multiplex ligation-dependent probe amplification assay (MLPA), long-read single molecule real-time sequencing (SMRT) and MALDI-TOF mass spectrometry (MS) were performed, and the proband was identified as compound heterozygous of β-thalassemia with Hb G-Taipei (HBB:c.68A &gt; G) and Hb Lepore-Boston-Washington (NG_000007.3:g.63632_71046del).</p></div><div><h3>Conclusion</h3><p>The combination of these molecular technologies including MLPA, long-read SMRT sequencing and MALDI-TOF MS is beneficial for identifying rare hemoglobin variants. This case also provides essential evidence for uncovering the effect of compound heterozygosity for Hb Lepore-Boston-Washington and Hb G-Taipei on hematological phenotypes and HbA_1c analysis.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00379"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000258/pdfft?md5=971f18030faece1fb725e8b59655a834&pid=1-s2.0-S2352551724000258-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139993618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New procalcitonin point-of-care test meets analytical performances to stratification of infectious syndrome","authors":"Anne Marie Dupuy,&nbsp;Ahmed Yahyaoui,&nbsp;Anne Sophie Bargnoux,&nbsp;Caroline Coulon,&nbsp;Stéphanie Badiou,&nbsp;Jean Paul Cristol","doi":"10.1016/j.plabm.2024.e00372","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00372","url":null,"abstract":"","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00372"},"PeriodicalIF":1.9,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000180/pdfft?md5=18362bf9457f2db6f3ef296a28d9404b&pid=1-s2.0-S2352551724000180-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139985449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low specificity of Aspergillus spp. ELITe MGB assay, and potential risks in management of invasive aspergillosis","authors":"Violaine Bothy ,&nbsp;Maria A. Argudín ,&nbsp;Nathalie Olive ,&nbsp;Cindy Barbée ,&nbsp;Benoît Kabamba-Mukadi ,&nbsp;Hector Rodriguez-Villalobos","doi":"10.1016/j.plabm.2024.e00378","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00378","url":null,"abstract":"<div><h3>Objectives</h3><p>In recent years, commercial molecular tools for diagnosis of invasive aspergillosis have emerged, requiring evaluation to ensure quality. Here we assessed the specificity of <em>Aspergillus</em> spp.-ELITe MGB Assay a commercial assay tergeting 18S gene of <em>Aspergillus</em> spp.</p></div><div><h3>Design and methods</h3><p>As part of a method validation, we evaluate the specificity of the <em>Aspergillus</em> spp.-ELITe MGB Assay by testing fourteen culture based samples of sequenced non-Aspergillus fungal species. The benefits of a pre-lysis treatment was evaluated in parallel on serial dilutions of an <em>Aspergillus fumigatus</em> strain.</p></div><div><h3>Results</h3><p>Our findings revealed cross-reactivity in five strains using the 50 copies/mL cut-off recommended by the manufacturer, suggesting potential diagnostic errors and inappropriate management of patients. Pre-lysis treatment does not affect the limit of detection at serial dilution.</p></div><div><h3>Conclusions</h3><p>In conclusion, the <em>Aspergillus</em> spp. ELITe MGB Assay exhibits limited specificity in culture-based samples, underscoring the importance of careful utilization in laboratories. Further studies are warranted to better comprehend of the impact of this cross-reactivity on clinical samples.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00378"},"PeriodicalIF":1.9,"publicationDate":"2024-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000246/pdfft?md5=9dafc65c4696e5413903162494a44dcb&pid=1-s2.0-S2352551724000246-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139985605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Temperature stability of urinary F2-isoprostane and 8-hydroxy-2′-deoxyguanosine","authors":"Katarzyna Kordas ,&nbsp;Diala Ghazal ,&nbsp;Elena I. Queirolo ,&nbsp;James R. Olson ,&nbsp;María Inés Beledo ,&nbsp;Richard W. Browne","doi":"10.1016/j.plabm.2024.e00373","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00373","url":null,"abstract":"<div><h3>Background</h3><p>Clinical and epidemiological studies employ long-term temperature storage but the effect of temperature on the stability of oxidative stress (OS) markers is unknown. We investigated the effects of storage at −20 °C and −80 °C over 4–9 months on F₂-isoprostanes (F₂-IsoP) and 8-hydroxy-2<em>′</em>-deoxyguanosine (8-OHdG) levels in urine of children, a population group among whom the measurement of these markers is still limited.</p></div><div><h3>Methods</h3><p>Paired spot urine samples from 87 children aged 8.9–16.9 years (52.9% boys) were analyzed. Samples were preserved with 0.005% (w/v) butylated hydroxytoluene, portioned and stored within 2.5 h (median) of collection. Samples were analyzed in duplicate or triplicate using commercial ELISA kits and their correlations were evaluated.</p></div><div><h3>Results</h3><p>F₂-IsoP and 8-OHdG showed high correlations (Spearman rho of 0.90 and 0.97, respectively; P &lt; 0.0001) with storage at −20 °C and −80 °C. There was a strong agreement among categories of values for F₂-IsoP (Kappa = 0.76 ± 0.08, agreement = 83.9%, P &lt; 0.0001) and 8-OHdG: (Kappa = 0.83 ± 0.08, agreement = 88.4%, P &lt; 0.0001). The correlation between the temperatures for F₂-IsoP concentrations was also high when stored for &lt;4 (0.93), 4 (0.93), and 5 months (0.88), all P &lt; 0.0001. For 8-OHdG, Spearman correlations at &lt;8, 8, and 9 months of storage at −20 °C and −80 °C were 0.95, 0.98, and 0.96 (all P &lt; 0.0001), respectively.</p></div><div><h3>Conclusions</h3><p>Urine storage with BHT for up to nine months at a temperature of −20 °C to −80 °C yields highly comparable concentrations of F₂-IsoP and 8-OHdG.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00373"},"PeriodicalIF":1.9,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000192/pdfft?md5=1f9c3849178398128514fbaedf3434f7&pid=1-s2.0-S2352551724000192-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139935561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishing reference intervals for soluble urokinase plasminogen activator receptor in Northern European adults","authors":"Stine Bakkensen Bruun ,&nbsp;Jeppe Buur Madsen ,&nbsp;Claus Lohman Brasen","doi":"10.1016/j.plabm.2024.e00371","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00371","url":null,"abstract":"<div><h3>Objectives</h3><p>Soluble urokinase plasminogen activator receptor (suPAR) may have untapped potential in clinical diagnostics. Previous studies determined reference intervals using an enzyme-linked immunoassay, but there is a need for reference intervals using a faster assay if the analysis is to be used in emergency medicine. The current study aims to determine reference intervals for suPAR using a fully automated particle-enhanced turbidimetric immunoassay (PETIA) according to the Clinical and Laboratory Standards Institute guideline A28-A3c.</p></div><div><h3>Design and methods</h3><p>Blood samples were prospectively collected from Danish blood donors. Plasma suPAR was analyzed on the cobas 8000 module c502 in an open channel using a PETIA. Sex-partitioned reference intervals were determined using a parametric quantile approach.</p></div><div><h3>Results</h3><p>The study included 241 participants—123 females and 118 males. The common reference interval for suPAR was 1.56–4.11 ng/mL (95% confidence intervals (CI) for the lower and upper limits were 1.56–1.63 and 3.81–4.47, respectively). The reference interval for females was 1.59–4.65 ng/mL (95% CIs 1.48–1.70 and 4.09–5.48, respectively) and for males, 1.56–3.59 ng/mL (95% CIs 1.47–1.65 and 3.31–3.93, respectively).</p></div><div><h3>Conclusions</h3><p>Our results support using sex-partitioned reference intervals for suPAR and provide a basis for future studies using the PETIA method.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00371"},"PeriodicalIF":1.9,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000179/pdfft?md5=f335061a211165e564c72fb37dceb885&pid=1-s2.0-S2352551724000179-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139907696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation between variant call accuracy and quality parameters in comprehensive cancer genomic profiling tests","authors":"Hideaki Isago,&nbsp;Kousuke Watanabe,&nbsp;Yumiko Satoh,&nbsp;Makoto Kurano","doi":"10.1016/j.plabm.2024.e00369","DOIUrl":"10.1016/j.plabm.2024.e00369","url":null,"abstract":"<div><h3>Background</h3><p>Comprehensive genomic profiling (CGP) tests have been widely utilized in clinical practice. In this test, the variant list automatically output from the data analysis pipeline often contains false-positive variants, although the correlation between the quality parameters and prevalence of false-positive variants remains unclear.</p></div><div><h3>Methods</h3><p>We analyzed 125 CGP tests performed in our laboratory. False-positive variants were manually detected via visual inspection. The quality parameters of both wet and dry processes were also analyzed.</p></div><div><h3>Results</h3><p>Among the 125 tests, 52 (41.6%) required more than one correction of the called variants, and 21 (16.8%) required multiple corrections. A significant correlation was detected between somatic false-positive variants and quality parameters in the wet (ΔΔCq, pre-capture library peak size, pre-capture library DNA amount, capture library peak size, and capture library concentration) and dry processes (total reads, mapping rates, duplication rates, mean depth, and depth coverage). Capture library concentration and mean depth were strong independent predictors of somatic false-positive variants.</p></div><div><h3>Conclusions</h3><p>We demonstrated a correlation between somatic false-positive variants and quality parameters in the CGP test. This study facilitates gaining a better understanding of CGP test quality management.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00369"},"PeriodicalIF":1.9,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000155/pdfft?md5=482fb8d2769a4b2634936ad7334284a5&pid=1-s2.0-S2352551724000155-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139832288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Performance evaluation of the new Sysmex XR-Series haematology analyser","authors":"Kenichi Fujimaki ,&nbsp;Kornelia Hummel ,&nbsp;Immaculate Magonde ,&nbsp;Katharina Dammert ,&nbsp;Yoshiko Hamaguchi ,&nbsp;Konstantinos Mintzas ,&nbsp;Jarob Saker ,&nbsp;Ondrej Valina ,&nbsp;Klaus-Martin Otte","doi":"10.1016/j.plabm.2024.e00370","DOIUrl":"10.1016/j.plabm.2024.e00370","url":null,"abstract":"<div><h3>Background</h3><p>The new XR-Series haematology analyser from Sysmex provides increased throughput and automation, along with a new reagent in WDF channel for optimised WBC differential.</p></div><div><h3>Methods</h3><p>An analytical performance study for the XR analyser was conducted to evaluate the WDF channel parameters in comparison to the instrument specifications. Additionally, 7460 samples were measured on XR and XN analysers to compare selected parameters and flags, and 930 randomly selected samples were further evaluated with microscopy.</p></div><div><h3>Results</h3><p>All investigated aspects of the analytical performance study for the XR fell within the manufacturer specifications. The correlation coefficients between the two systems for the parameters tested were greater than 0.983 for the main CBC and DIFF parameters, greater than 0.909 for the Extended Inflammation Parameters, and greater than 0.932 for the parameters used in the workflow rulesets of the <em>Extended</em> IPU. Similarly high sensitivities for the detection of abnormal cells were observed for the ‘Blasts/Abn Lympho?’ flag (XN: 100%, XR: 99.0%) and WPC abnormal flags (‘Blasts?’ or ‘Abn Lympho?‘) (XN: 97.0%, XR: 96.0%). XN with WPC channel had a 26% reduction of false positive smears compared to XR with 22% reduction, a statistically non-significant difference.</p></div><div><h3>Conclusion</h3><p>The XR analyser had very good analytical performance, and highly comparable results to the predecessor XN analyser in all investigated parameters, flags and workflow aspects.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00370"},"PeriodicalIF":1.9,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000167/pdfft?md5=b03d47a7f3e5f233a84c776dd83c29fb&pid=1-s2.0-S2352551724000167-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139822697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of quality metrics in comprehensive cancer genomic profiling using a dual DNA–RNA panel","authors":"Kousuke Watanabe ,&nbsp;Shinji Kohsaka ,&nbsp;Kenji Tatsuno ,&nbsp;Aya Shinozaki-Ushiku ,&nbsp;Hideaki Isago ,&nbsp;Hidenori Kage ,&nbsp;Tetsuo Ushiku ,&nbsp;Hiroyuki Aburatani ,&nbsp;Hiroyuki Mano ,&nbsp;Katsutoshi Oda","doi":"10.1016/j.plabm.2024.e00368","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00368","url":null,"abstract":"<div><h3>Background</h3><p>The nucleic acid quality from formalin-fixed paraffin-embedded (FFPE) tumor vary among samples, resulting in substantial variability in the quality of comprehensive cancer genomic profiling tests. The objective of the study is to investigate how nucleic acid quality affects sequencing quality. We also examined the variations in nucleic acid quality among different hospitals or cancer types.</p></div><div><h3>Methods</h3><p>Three nucleic acid quality metrics (ddCq, Q-value, and DV200) and five sequencing quality metrics (on-target rate, mean depth, coverage uniformity, target exon coverage, and coverage of the housekeeping gene) were examined using 585 samples from the Todai OncoPanel, a dual DNA–RNA panel.</p></div><div><h3>Results</h3><p>In the DNA panel, ddCq served as an indicator of sequencing depth and Q-value reflected the uniformity of sequencing across different regions. It was essential to have favorable values not only for ddCq but also for Q-value to obtain ideal sequencing results. For the RNA panel, DV200 proved to be a valuable metric for assessing the coverage of the housekeeping genes. Significant inter-hospital differences were observed for DNA quality (ddCq and Q-value), but not for RNA quality (DV200). Differences were also observed among cancer types, with Q-value being the lowest in lung and the highest in cervix, while DV200 was the highest in lung and the lowest in bowel.</p></div><div><h3>Conclusions</h3><p>We demonstrated distinct characteristics and high predictive performances of ddCq, Q-value, and DV200. Variations were observed in the nucleic acid quality across hospitals and cancer types. Further study is warranted on preanalytical factors in comprehensive cancer genomic profiling tests.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00368"},"PeriodicalIF":1.9,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000143/pdfft?md5=0d4f364d688beec09b431ca258e9bb7d&pid=1-s2.0-S2352551724000143-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139748352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Laboratory tests for investigating anemia: From an expert system to artificial intelligence","authors":"Philippe Halfon ,&nbsp;Guillaume Penaranda ,&nbsp;Dan Ringwald ,&nbsp;Frederique Retornaz ,&nbsp;Nicolas Boissel ,&nbsp;Sylvain Bodard ,&nbsp;Jean Marc Feryn ,&nbsp;David Bensoussan ,&nbsp;Patrice Cacoub","doi":"10.1016/j.plabm.2024.e00357","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00357","url":null,"abstract":"<div><h3>Objective</h3><p>To compare the laboratory tests conducted in real-life settings for patients with anemia with the expected prescriptions derived from an optimal checkup.</p></div><div><h3>Methods</h3><p>A panel of experts formulated an “optimal laboratory test assessment\" specific to each anemia profile. A retrospective analysis was done of the laboratory tests conducted according to the type of anemia (microcytic, normocytic or macrocytic). Using an algorithmic system, the laboratory tests performed in real-life practice were compared with the recommendations suggested in the “optimal laboratory test assessment” and with seemingly “unnecessary” laboratory tests.</p></div><div><h3>Results</h3><p>In the analysis of the “optimal laboratory test assessment”, of the 1179 patients with microcytic anemia, 269 (22.8%) had had one of the three tests recommended by the expert system, and only 33 (2.8%) had all three tests. For normocytic anemia, 1054 of 2313 patients (45.6%) had one of the eleven recommended tests, and none had all eleven. Of the 384 patients with macrocytic anemia, 196 (51%) had one of the four recommended tests, and none had all four. In the analysis of “unnecessary laboratory tests\", one lab test was unnecessarily done in 727/3876 patients (18.8%), i.e. 339 of 1179 (28.8%) microcytic, 171 of 2313 (7.4%) normocytic, and 217 of 384 (56.5 %) macrocytic anemias.</p></div><div><h3>Conclusion</h3><p>Laboratory investigations of anemia remain imperfect as more than half of the cases did not receive the expected tests. Analyzing other diagnostic domains, the authors are currently developing an artificial intelligence system to assist physicians in enhancing the efficiency of their laboratory test prescriptions.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00357"},"PeriodicalIF":1.9,"publicationDate":"2024-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000039/pdfft?md5=2ffe98457e0edcdbb69e1c04318ccbe6&pid=1-s2.0-S2352551724000039-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139748353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}