Laboratory medicine最新文献

Diagnostic challenges and the importance of genetic testing in α/β-thalassemia: a case report. α/β-地中海贫血的诊断挑战和基因检测的重要性：一个病例报告。

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Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmag012

Samia Hoque, Mohammed Mejbahuddin Mia, Md Imrul Kaes, Abul Basar Mohammad Kamrul Hasan, Sheikh Anisul Haque

{"title":"Diagnostic challenges and the importance of genetic testing in α/β-thalassemia: a case report.","authors":"Samia Hoque, Mohammed Mejbahuddin Mia, Md Imrul Kaes, Abul Basar Mohammad Kamrul Hasan, Sheikh Anisul Haque","doi":"10.1093/labmed/lmag012","DOIUrl":"https://doi.org/10.1093/labmed/lmag012","url":null,"abstract":"Introduction: Co-inheritance of α- and β-thalassemia presents major diagnostic challenges, particularly in infancy, when standard hematologic parameters are often misleading. Reliance on routine hemoglobin analysis alone may therefore lead to delayed or missed diagnosis.Methods: We report a case of a 4-month-old female infant who presented with severe transfusion-dependent anemia, pallor, lethargy, and hepatosplenomegaly. Comprehensive laboratory evaluation included peripheral blood film, hemolysis workup, hemoglobin capillary electrophoresis, and molecular genetic testing using multiplex polymerase chain reaction and reverse hybridization.Results: Initial investigations revealed normocytic normochromic anemia with hemolytic features. Capillary electrophoresis showed normal adult hemoglobin A2 and mildly elevated fetal hemoglobin, insufficient to explain the clinical severity. Molecular analysis identified a heterozygous ‒α4.2 deletion and a heterozygous IVSI-5(G>C) mutation, confirming compound heterozygous α/β-thalassemia.Discussion: This case illustrates how age-related hemoglobin expression and the masking effect of α-thalassemia can render capillary electrophoresis nondiagnostic in infants with β-thalassemia. Genetic testing provided definitive diagnosis and underscores its critical role in diagnosing infants with unexplained or disproportionate anemia. Early molecular confirmation enables accurate diagnosis, appropriate counseling, and optimized clinical management.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679828","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}

引用次数: 0

Colorimetric LAMP assay enables rapid detection of Hb Lepore and Hb Sicilian deletions in the β-globin gene cluster with minimal instrumentation. 比色LAMP法能够快速检测β-珠蛋白基因簇中的Hb Lepore和Hb Sicilian缺失。

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Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmag015

Leila Riahi, Mohsen Golabi, Hossein Jalali

{"title":"Colorimetric LAMP assay enables rapid detection of Hb Lepore and Hb Sicilian deletions in the β-globin gene cluster with minimal instrumentation.","authors":"Leila Riahi, Mohsen Golabi, Hossein Jalali","doi":"10.1093/labmed/lmag015","DOIUrl":"https://doi.org/10.1093/labmed/lmag015","url":null,"abstract":"Introduction: Accurate and timely detection of hemoglobin (Hb) variants, including Hb Lepore and Hb Sicilian, is crucial for diagnosing and managing β-thalassemia. This study aimed to develop a simple and rapid colorimetric loop-mediated isothermal amplification (LAMP) assay for direct identification of these deletions without the need for complex laboratory equipment.Methods: Blood samples from patients with confirmed Hb Lepore and Hb Sicilian deletions were analyzed. Genomic DNA was extracted, and LAMP primers targeting deletion breakpoints were designed using PrimerExplorer (Eiken Chemical Co), with the GAPDH PCR module (Bio-Rad Laboratories, Inc) as an internal control. Reactions were performed under isothermal conditions. Colorimetric detection was performed using CYTO24 dye, allowing visual assessment, while real-time fluorescence monitoring was carried out using CYTO 9 dye.Results: The LAMP assay accurately detected both deletions within 30 minutes, showing concordant results with reference methods in the tested samples. The colorimetric readout allowed easy visual interpretation without electrophoresis or specialized instruments, supporting its use in clinical and research settings.Discussion: The developed colorimetric LAMP assay provides a simple, fast, and reliable alternative to polymerase chain reaction-based methods for screening hemoglobinopathies involving large deletions. Its visual detection and minimal equipment requirements make it suitable for low-resource or point-of-care settings. Further validation with larger cohorts and additional variants is recommended to enhance the assay's clinical utility.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679859","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}

引用次数: 0

Expression of lncRNA-ATB and miR-200c in patients with bladder cancer: a pilot study. lncRNA-ATB和miR-200c在膀胱癌患者中的表达：一项初步研究

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Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmag011

Murat Kaytaz, Mehmet Enes Degirmenci, Canan Kucukgergin, Abdurrahman Fatih Aydin, Oner Sanli, Selcuk Erdem, Faruk Ozcan, Yasemin Ozluk, Semra Dogru Abbasoglu

{"title":"Expression of lncRNA-ATB and miR-200c in patients with bladder cancer: a pilot study.","authors":"Murat Kaytaz, Mehmet Enes Degirmenci, Canan Kucukgergin, Abdurrahman Fatih Aydin, Oner Sanli, Selcuk Erdem, Faruk Ozcan, Yasemin Ozluk, Semra Dogru Abbasoglu","doi":"10.1093/labmed/lmag011","DOIUrl":"https://doi.org/10.1093/labmed/lmag011","url":null,"abstract":"Introduction: Bladder cancer is prevalent worldwide; however, the detailed mechanisms underlying its initiation and progression remain incompletely understood. This study aimed to investigate the expression levels of long noncoding RNA activated by transforming growth factor-β (lncRNA-ATB) and microRNA-200c (miR-200c) in tumor tissues of patients with bladder cancer and to explore their association with clinicopathologic features.Methods: The study cohort consisted of 50 patients diagnosed with non-muscle-invasive bladder cancer. Tumor tissues and adjacent normal tissues were obtained during transurethral resection of bladder tumor. The relative expression levels of lncRNA-ATB and miR-200c were determined using quantitative reverse transcriptase-polymerase chain reaction.Results: LncRNA-ATB expression was substantially higher in tumor tissues than in adjacent normal tissues. Conversely, miR-200c was upregulated in tumor tissues but showed lower expression in high-grade tumors compared with low-grade tumors. A receiver operating characteristic curve analysis indicated that lncRNA-ATB (72% sensitivity, 68% specificity) and miR-200c (68% sensitivity, 64% specificity) could distinguish tumor from normal tissues.Discussion: This study is the first to concurrently evaluate lncRNA-ATB and miR-200c expression in non-muscle-invasive bladder cancer. Even in early-stage bladder cancer, alterations in the lncATB/miR-200c axis appear to be associated with tumor grade and may potentially serve as an indicator of metastatic potential.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147648016","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}

引用次数: 0

High-performance liquid chromatography screening reveals HbS/β+-thalassemia double heterozygosity as a pediatric muscular dystrophy mimic. 高效液相色谱筛选显示HbS/β+-地中海贫血双杂合性是儿童肌肉萎缩症的模拟物。

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Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmag019

Carlos López-Medina, Isabel M Portell-Rigo, Virginia González-Iribarren, Carlos González-Oller, Alicia Sánchez-Crespo, Maria-Angustias Molina-Arrebola

{"title":"High-performance liquid chromatography screening reveals HbS/β+-thalassemia double heterozygosity as a pediatric muscular dystrophy mimic.","authors":"Carlos López-Medina, Isabel M Portell-Rigo, Virginia González-Iribarren, Carlos González-Oller, Alicia Sánchez-Crespo, Maria-Angustias Molina-Arrebola","doi":"10.1093/labmed/lmag019","DOIUrl":"https://doi.org/10.1093/labmed/lmag019","url":null,"abstract":"Introduction: Compound hemoglobinopathies may present with variable clinical phenotypes, particularly when additional genetic modifiers coexist. Sickle cell hemoglobin (HbS)/β+-thalassemia can mimic other pediatric conditions, potentially delaying diagnosis. High-performance liquid chromatography (HPLC) is a widely accessible first-line screening tool that can facilitate identification of HbS/β+-thalassemia.Methods: An 8-year-old boy from Mali presented with recurrent severe lower limb pain and gait impairment, initially suggesting a neuromuscular disorder. Laboratory evaluation revealed severe microcytic hypochromic anemia (hemoglobin, 6.3 g/dL) with reticulocytosis and biochemical evidence of hemolysis, despite preserved iron stores. Creatine kinase levels were normal. Peripheral smear showed anisopoikilocytosis with target cells, basophilic stippling, and rare sickled erythrocytes.Results: The HPLC findings demonstrated HbS predominance (64.2%) with elevated fetal hemoglobin (8.1%), increased adult hemoglobin A2 (5.4%), and residual adult hemoglobin A (22.3%), consistent with HbS/β+-thalassemia. Molecular testing confirmed heterozygous HbS and β+-thalassemia variants, homozygous 3.7-kilobase α-globin gene deletion, and a pathogenic glucose-6-phosphate dehydrogenase A‒ haplotype. Positive parvovirus B19 immunoglobulin M suggested an additional acute trigger.Discussion: Routine hematologic parameters combined with HPLC screening can promptly identify complex hemoglobinopathies in clinically misleading presentations, enabling accurate diagnosis, appropriate management, and genetic counseling.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13102170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147793481","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}

引用次数: 0

Suspicious bands in serum and urine protein immunofixation electrophoresis tests in patients with and without a history of monoclonal gammopathies: a retrospective database study. 有或无单克隆伽玛病病史患者血清和尿蛋白免疫固定电泳检测可疑带：一项回顾性数据库研究

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Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmag013

Merve Dincer, Ozgur Aydin, Volkan Karakus, Guzin Aykal

{"title":"Suspicious bands in serum and urine protein immunofixation electrophoresis tests in patients with and without a history of monoclonal gammopathies: a retrospective database study.","authors":"Merve Dincer, Ozgur Aydin, Volkan Karakus, Guzin Aykal","doi":"10.1093/labmed/lmag013","DOIUrl":"https://doi.org/10.1093/labmed/lmag013","url":null,"abstract":"Introduction: Electrophoresis tests are reported as negative, positive, or-rarely-as suspicious for monoclonal band (SfMB). This study aimed to determine the fate of patients with SfMB findings in long-term follow-up.Methods: Patients with SfMB results obtained in 2019 were retrospectively identified. These patients were examined for the presence of any control electrophoresis test until their most recent hospital visit in 2025.Results: In 2019, electrophoresis tests were reported for a total of 1289 patients. In total, 115 patients with no prior electrophoresis test results were reported as positive (newly diagnosed patients) and 30 patients with no prior electrophoresis test results were reported as SfMB. Among the 30 SfMB cases, control electrophoresis tests had yielded a positive result in 2 patients and a negative result in 12 patients. In the remaining 16 patients, 7 were without control electrophoresis test results but had long clinical follow-up, whereas 9 were without a control electrophoresis test result and clinical follow-up. In 357 patients with a previously diagnosed monoclonal gammopathy, 18 were reported as SfMG.Discussion: None of the patients initially reported as having an SfMB developed monoclonal gammopathy during their follow-up period. We recommend that cases reported as \"suspicious\" be managed separately in patients with and without a prior monoclonal gammopathy diagnosis, where the term \"weak positive\" may be more appropriate in patients with a known monoclonal gammopathy.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147719137","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}

引用次数: 0

Antibody screening for red blood cell alloimmunization in patients with chronic kidney disease undergoing hemodialysis in Arak, Iran. 伊朗阿拉克地区接受血液透析的慢性肾病患者红细胞同种免疫抗体筛查

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Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmaf066

Maryam Yavari, Saeed Hassani, Mahmood Khosravi, Mino Golestani, Nasser Saeidi

{"title":"Antibody screening for red blood cell alloimmunization in patients with chronic kidney disease undergoing hemodialysis in Arak, Iran.","authors":"Maryam Yavari, Saeed Hassani, Mahmood Khosravi, Mino Golestani, Nasser Saeidi","doi":"10.1093/labmed/lmaf066","DOIUrl":"https://doi.org/10.1093/labmed/lmaf066","url":null,"abstract":"Introduction: This study aimed to investigate the prevalence of red blood cell (RBC) alloimmunization in hemodialysis-dependent patients with chronic kidney disease (CKD) in Arak, Iran. There is a paucity of incidence data for the region's transfused recipients because pretransfusion antibody screening is not routine.Methods: This study investigated the prevalence of RBC alloimmunization among patients with CKD through a cross-sectional analysis from September 2022 to February 2023. A total of 49 transfused patients (33 male and 16 female) with CKD who had received at least 1 unit of ABO- and Rh D-matched RBCs were included. Antibody screening and identification tests were performed on these patients' sera.Results: The most common blood group among the patients was O Rh D positive (44.9%), followed by A Rh D positive (16.3%), B Rh D positive (14.3%), AB Rh D positive (8.2%), A Rh D negative (6.14%), B Rh D negative (6.1%), and O Rh D negative (4.1%). The mean (SD) number of RBC units transfused was 3.7 (3.3 [range, 1-14]) units; the median (IQR) was 3 (1-6) units. Diabetes was the most common underlying disease (n = 28 [57%]). None of these 49 patients was positive in our analysis for detecting antibodies against transfused RBCs.Discussion: In this study, none of the patients developed RBC alloantibodies, and more than 50% had diabetes.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147793469","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}

引用次数: 0

Harmonization of thyroid function test measurements across multiple immunoassay platforms for a common reference interval. 协调甲状腺功能测试测量跨多个免疫分析平台为一个共同的参考区间。

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Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmaf091

Gyu Won Cho, Min-Jeong Kim, Min Young Lee, Myeong Hee Kim, Woo In Lee, So Young Kang

{"title":"Harmonization of thyroid function test measurements across multiple immunoassay platforms for a common reference interval.","authors":"Gyu Won Cho, Min-Jeong Kim, Min Young Lee, Myeong Hee Kim, Woo In Lee, So Young Kang","doi":"10.1093/labmed/lmaf091","DOIUrl":"https://doi.org/10.1093/labmed/lmaf091","url":null,"abstract":"Introduction: Reference intervals for thyroid function tests vary across immunoassay platforms, leading to inconsistent clinical interpretations. This study aimed to establish a harmonized common reference interval through recalibration and evaluate its clinical utility.Methods: Leftover serum samples from adults undergoing health examinations (n = 283 for thyrotropin [formerly thyroid-stimulating hormone], n = 265 for triiodothyronine [T3], and n = 283 for free thyroxine [FT4]) were analyzed on Abbott, Beckman Coulter, and Roche platforms. Percentile transformation with regression-based recalibration was applied to establish method-specific reference intervals, which were integrated into a common reference interval. Agreement was evaluated using coefficients of variation (s/x̄) × 100 (CVs), width ratios, overlap percentages, and limit-difference percentages.Results: Recalibration markedly reduced variability for thyrotropin (midpoint CV, 10.7% → 2.9%) and FT4 (22.7% → 6.1%). In contrast, T3 demonstrated limited improvement (midpoint CV, 5.1% → 9.3%; overlap, 73%-78%) and a large Abbott lower-limit discrepancy (ΔL% = 21.1%). Manufacturer-provided reference intervals demonstrated poor agreement (as low as 88% for thyrotropin and 91% for T3), whereas recalibrated and common reference intervals achieved 97% to 99% concordance.Discussion: Percentile transformation with regression-based recalibration enables practical and cost-effective harmonization of thyrotropin and FT4 reference intervals. Although T3 harmonization remained limited, this approach demonstrates the feasibility and clinical value of harmonized common reference intervals for improving interpretive consistency in thyroid function tests.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147617209","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}

引用次数: 0

Leukocyte telomere length and chronic disease burden in an adult community sample: a cross-sectional study. 成人社区样本中的白细胞端粒长度和慢性疾病负担：一项横断面研究。

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Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmag023

Jerome Alfred Q Tabajonda, Shang-Hsien Yang, Yi-Ling Shen, Flordeluna Z Mesina, Maureen B Sabit, Teresa T Sy Ortin, Carl Lexter B Tan, Cheng-Yoong Pang, Chi-Cheng Li, Liuh-Yow Chen, Pia Marie S P Albano

{"title":"Leukocyte telomere length and chronic disease burden in an adult community sample: a cross-sectional study.","authors":"Jerome Alfred Q Tabajonda, Shang-Hsien Yang, Yi-Ling Shen, Flordeluna Z Mesina, Maureen B Sabit, Teresa T Sy Ortin, Carl Lexter B Tan, Cheng-Yoong Pang, Chi-Cheng Li, Liuh-Yow Chen, Pia Marie S P Albano","doi":"10.1093/labmed/lmag023","DOIUrl":"https://doi.org/10.1093/labmed/lmag023","url":null,"abstract":"Introduction: Telomere length is a biomarker of cellular aging and chronic disease risk, but its population-level correlates and disease-specific patterns remain unclear. This study examined telomere length associations and its contribution to disease prediction.Methods: Leukocyte telomere length measured using quantitative polymerase chain reaction was analyzed in 615 Filipino adults. Associations with sociodemographic, lifestyle, and physiologic factors were evaluated among healthy participants using variance-robust methods and Welch tests. Linear support vector classifiers with SHapley Additive exPlanations interpretation predicted cancer, cardiovascular disease (CVD), mental health disorders, allergy, and diabetes using 5-fold cross-validation.Results: Postgraduate participants had shorter telomere lengths than did high school graduates (mean difference, 2.740; P = .02) and college graduates (mean difference, 2.884; P = .01). Telomere length did not differ between individuals without CVD and CVD alone; however, CVD-only cases had shorter telomere lengths than did those with additional comorbidities (mean difference, -3.253; P = .009). Single allergy cases had shorter telomere lengths (P = .03), whereas cancer-only cases had longer telomere lengths (P = .003). Model accuracies ranged from 85.37% to 93.47%, with telomere length contributing mainly to cancer prediction.Discussion: Telomere length showed disease-specific associations and improved cancer prediction but had limited links with measured exposures. Longitudinal studies are needed to clarify causality and refine telomere length-based risk stratification.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679796","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}

引用次数: 0

Communication of newly diagnosed monoclonal gammopathy as a quasi-critical laboratory value. 新诊断的单克隆γ病作为准临界实验室价值的交流。

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Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmaf067

Gurmukh Singh, Roni J Bollag, Natasha M Savage, Mei Zheng, Amany Keruakous

引用次数: 0

Development of an in-house control standard for quantitative polymerase chain reaction-based diagnosis of leprosy. 制定麻风病定量聚合酶链反应诊断的内部控制标准。

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Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmag020

Selfu Girma, Mesfin Tafesse Gemeda, Adugna Abdi Woldesemayat, Kidist Bobosha, Endalamaw Gadisa

{"title":"Development of an in-house control standard for quantitative polymerase chain reaction-based diagnosis of leprosy.","authors":"Selfu Girma, Mesfin Tafesse Gemeda, Adugna Abdi Woldesemayat, Kidist Bobosha, Endalamaw Gadisa","doi":"10.1093/labmed/lmag020","DOIUrl":"https://doi.org/10.1093/labmed/lmag020","url":null,"abstract":"Introduction: To develop an in-house reference control DNA standard targeting the RLEP region of Mycobacterium leprae for use in quantitative polymerase chain reaction (qPCR) diagnostics, aiming to reduce dependence on animal models and external sources.Method: Previously characterized DNA samples from patients with leprosy were used to amplify and sequence the 450-base pair RLEP region. A specific 131-base pair segment within this region was targeted for qPCR assay development. The amplified products were purified; sequenced using Illumina next-generation sequencing technology; and validated through bioinformatics analyses, including Basic Local Alignment Search Tool (BLAST; National Institutes of Health) alignment and copy number assessment.Results: The consensus sequence aligned perfectly with the known RLEP region. The BLAST analysis revealed 37 copies of the target sequence throughout the genome, confirming the sequence's utility as a sensitive diagnostic marker. The qPCR assay successfully detected the target in both reference and clinical samples, with melting curve analysis indicating high specificity.Discussion: An in-house M leprae RLEP control standard was successfully developed that provides a reliable, ethical, and resource-efficient alternative to traditional animal-derived controls for leprosy diagnosis using qPCR.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147793508","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}

引用次数: 0