Background Intravenous (IV) fluid contamination within clinical specimens causes an operational burden on the laboratory when detected, and potential patient harm when undetected. Even mild contamination is often sufficient to meaningfully alter results across multiple analytes. A recently reported unsupervised learning approach was more sensitive than routine workflows, but still lacked sensitivity

Background The reference change value (RCV) is calculated by combining the within-subject biological variation (CVI) and local analytical variation (CVA). These calculations do not account for the variation seen in preanalytical conditions in routine practice or CVI in patients presenting for treatment. As a result, the RCVs may not reflect routine practice or align with clinicians’ experiences. We

Background Tandem repeats (TRs) are abundant in the human genome and associated with repeat expansion disorders. Our study aimed to develop a tandem repeat panel utilizing targeted long-read sequencing to evaluate known TRs associated with these disorders and assess its clinical utility. Methods We developed a targeted long-read sequencing panel for 70 TR loci, termed dynamic mutation third-generation

Background Psoriasis is a chronic inflammatory skin disorder often associated with obesity. Adiponectin, an anti-inflammatory protein-hormone secreted by adipose tissue, may be a link between obesity and psoriasis. We hypothesized that low plasma adiponectin is associated with an increased risk of psoriasis in observational and causal genetic studies. Methods In observational analyses, we used information

Background cfDNA fragmentomics-based liquid biopsy is a potential option for noninvasive bladder cancer (BLCA) detection that remains an unmet clinical need. Methods We assessed the diagnostic performance of cfDNA hotspot-driven machine-learning models in a cohort of 55 BLCA patients, 51 subjects with benign conditions, and 11 healthy volunteers. We further performed functional bioinformatics analysis

Background Obesity, defined by body mass index (BMI) alone, is a metabolically heterogeneous disorder with distinct cardiovascular manifestations across individuals. This study aimed to investigate the associations of a proteomic signature of BMI with risk of major subtypes of cardiovascular disease (CVD). Methods A total of 40 089 participants from UK Biobank, free of CVD at baseline, had complete

BACKGROUND Early detection of the cell type changes underlying several genitourinary tract diseases largely remains an unmet clinical need, where existing assays, if available, lack the cellular resolution afforded by an invasive biopsy. While messenger RNA in urine could reflect the dynamic signal that facilitates early detection, current measurements primarily detect single genes and thus do not

BACKGROUND Serum free light chains (FLCs) are an essential clinical biomarker for the diagnosis and monitoring of patients with plasma cell neoplasms. The current widely used immunoassay methods quantify total serum FLCs, which include monoclonal FLCs as well as FLCs in the polyclonal background. Patients with chronic diseases, inflammatory disorders, or renal dysfunction can have elevated total FLCs

Background Untargeted metabolomics has shown promise in expanding screening and diagnostic capabilities for inborn errors of metabolism (IEMs). However, inter-batch variability remains a major barrier to its implementation in the clinical laboratory, despite attempts to address this through normalization techniques. We have developed a sustainable, matrix-matched reference material (RM) using the iterative

Background The COVID-19 pandemic and acute respiratory infections have underscored the necessity for high-throughput and timely molecular diagnostics. Existing molecular diagnostic methods are labor-intensive, a challenge particularly evident in large-scale testing. This study aims to streamline the nucleic acid testing process by integrating extraction and detection in PCR testing, thereby optimizing

Background Chromogranin A (CgA) is a hydrophilic and acidic protein, present in the chromaffin granules of neuroendocrine cells. It is the preferred tumor marker for the monitoring of neuroendocrine tumors (NETS), which are often found in the lungs, appendix, pancreas, and gastrointestinal tract. Previous CgA assays were performed by manual ELISA testing, and were not FDA-approved, leading to a longer

Background In recent years, under the selective challenge of antibiotics, the variety and number of drugresistant pathogenic microorganisms have increased significantly, which brings great challenges to clinical diagnosis and treatment, especially the infection caused by carbapenem resistant Enterobacteriaceae (CRE). Carbapenemases production is the main mechanism of drug resistance of Enterobacteriaceae

Background In August 2023 Our Lady of the Lake Regional Medical Center implemented a process for sepsis care based on a novel sepsis diagnostic (IntelliSep) in the Emergency Department (ED). As a component of our Sepsis Learning Health Program, we continually evaluate this process. Methods A nurse-driven protocol allows for IntelliSep ordering with triage assessment. Dependent upon bed availability

Background Plasmalogens are critical membrane structural components that are mainly generated by de novo synthesis starting in peroxisomes. Hence, patients with defects in peroxisome biogenesis (PBD) exhibit markedly reduced plasmalogen levels. Plasmalogen ratios are traditionally measured by gas chromatography-mass spectrometry (GC-MS); however, this method entails a lengthy sample extraction and

Background Sigma measures the number of SDs (z-value) from the existing sample mean to the nearest analytical performance standard or allowable error limit. Authors and software programs often measure sigma metrics for each QC sample but use an average sigma to compare methods and select QC strategies. That practice leads to dramatic over or under-estimation of the number of errors reported and the

Background Copy Number Variations (CNVs) are critical genetic markers in diversity and disease, yet their accurate extraction from medical literature remains challenging due to the complexity of genetic data. While specialized NLP models like CNV-ETLAI have been developed for this task, the advent of Large Language Models (LLMs) such as GPT-4 presents a potential alternative with broader applicability

Background Hidradenitis suppurativa (HS) is a chronic, inflammatory skin disease which affects areas rich in apocrine glands. The main disease manifestations are inflammatory nodules (IN) and draining tunnels (dT). The course and progression of the disease are difficult to predict. There is currently lack of any broadly accepted biomarker which may inform on the activity of hidradenitis suppurativa

Background The EXENT® system is an automated platform designed to quantify monoclonal immunoglobulins in serum. EXENT® combines immunoprecipitation and MALDI-TOF mass spectrometry for the detection of monoclonal immunoglobulins at levels lower than traditional gel based methods. This study was designed to demonstrate if EXENT® prepared samples that were negative could be reflexed to a more sensitive

Background Cisplatin [cis-dichlorodiamine platinum (II)], is a well-recognized chemotherapeutical drug. Cisplatin has been employed in treating a wide range of human cancers, such as those of the breast, bladder, lung, ovarian, and testicular cancers. Its therapeutic action is attributed to its capacity to form crosslinks with the DNA's purine bases, disrupting DNA repair processes, causing DNA damage

Background Hemolysis is a major pre-analytical concern for most laboratory analytes. Detection of hemolysis and mitigation efforts are especially important for analytes, such as potassium, with high intracellular concentrations. Routine serum and plasma chemistry tests are performed on analyzers with the capacity to detect and measure the degree of hemolysis. However, for whole blood chemistries and

Background Sexually transmitted infections (STIs) are one of the most common communicable diseases worldwide and are associated with significant morbidity and mortality. Data indicates that the four curable STIs - chlamydia, gonorrhea, trichomoniasis, and syphilis - cause over 375 million infections annually. Further, the infection rate for gonorrhea has increased by 63% in the United States and the

Background While i-STAT® cartridges offer the Physician a spectrum of analytical methods at the point of care for prompt diagnosis and interventions, these methods have to be harmonized with the laboratory methods in order to reliably detect shifts and trends. With this practical example we illustrate the importance of a program of routine comparisons between the i-STAT® and laboratory methods to detect

Background In the United States, an estimated 13% of women between the ages of 15 and 49 years, experience impaired reproductive potential (fecundity). Assessment of fecundity typically requires an in-person physician visit and venous blood collection to evaluate hormone levels and identify potential reproductive health conditions. Exploring less invasive, at-home sampling options could offer couples

Background Sexually transmitted infections (STIs) have serious negative consequences for reproductive health worldwide. They are associated with infertility, premature birth and neonatal infections. Five STI pathogens, namely Trichomonas vaginalis, Mycoplasma genitalium, Mycoplasma hominis, Ureaplasma parvum, and Ureaplasma urealyticum were selected for the evaluation of three potential real-time PCR

Background Recent pandemics, epidemics and outbreaks continually underscore the critical importance of resilient supply chains in healthcare, particularly in clinical laboratories where timely access to supplies is essential for patient care. Supply chain disruptions, whether due to global crises or localized challenges, can significantly impact laboratory operations, leading to delayed diagnoses,

Background Glial Fibrillary Acidic Protein (GFAP) levels are shown to be an indicator of neurologic injury in conditions like Traumatic Brain Injury (TBI) and stroke and as a marker of disease progression in neuromuscular disorders such as multiple sclerosis. Plasma GFAP is also implicated in detecting AD pathology, correlating to the clinical stage of the disease. The performance characteristics of

Background The Atellica® CI Analyzer is an automated, high-throughput integrated chemistry and immunoassay analyzer utilizing both Atellica® CH and Atellica® IM Assays. This study evaluated the analytical performance of the Atellica IM Cytomegalovirus IgG (CMV IgG) and Syphilis (Syph) Assays on the Atellica CI Analyzer. Methods Precision studies were performed according to CLSI EP05-A3 using native

Background High bilirubin levels are common in pediatric patients and are noted in patients undergoing extracorporeal membrane oxygenation (ECMO). Acute anticoagulation therapy necessitates frequent monitoring of anti-Factor Xa activity (aFXa), and high bilirubin levels cause interference in chromogenic assays. Moreover, large volumes of blood lead to iatrogenic anemia in pediatric and neonatal patients

Background The Atellica® CI Analyzer is an automated, high-throughput integrated chemistry and immunoassay analyzer utilizing both Atellica® CH and Atellica® IM Assays. This study evaluated the analytical performance of the Atellica CH Amphetamines (Amp), Barbiturates (Brb), Benzodiazepine (Bnz), Cannabinoids THC (Thc), Cocaine Metabolite (Coc), Ecstasy (Xtc), Methadone (Mdn), Opiates (Op), Oxycodone

Background Urine organic acid (UOA) analysis is essential for the diagnosis of inborn errors of metabolism (IEMs). Traditionally, UOA analysis is performed with gas chromatography-mass spectrometry (GC-MS) and requires time-consuming sample preparation steps including liquid-liquid extraction and derivatization. The rapid development of Ultra-Performance Liquid Chromatography Tandem Mass Spectrometry

Background The genetic variant p.R337H in the TP53 gene is a pathogenic variant associated with Li-Fraumeni Syndrome and an increased risk of developing various types of cancer, including breast cancer. This variant is present in about 1 in every 300 individuals in the Southern region of Brazil, likely due to a founder effect. Amplicon sequencing via the Sanger methodology remains prevalent for the

Background Point-of-care (POC) urine drug testing is a useful adjunct to self-reporting in rapid access addiction medicine settings to immediately guide patient management. However, available POC immunoassays have limitations including cross-reactivity with unrelated compounds or low sensitivity that may cause false results. Here, we assessed the performance of a multi-drug test panel by comparing

Background The incidence rate and mortality rate of liver cancer were 11.6 (ranked 8th among cancers) and 10.7 (4th) per 100,000 individuals respectively globally in 2020, whereas in Korea, they were higher at 29.5 (7th) and 20.6 (2nd) per 100,000 individuals. The National Cancer Screening Program (NCSP) in Korea conducts biannual concurrent liver ultrasound and serum alpha-fetoprotein (AFP) measurement

Background Analysis of material from fine needle aspiration of cervical thyroglobulin nodules with Beckman Coulter reagents on the ACCESS equipment and Calcitonin using the Siemens reagent on the Immulite equipment. The matrix effect, linearity and the limit of analytical sensitivity were analyzed. This study aims to analyze the correlation between the serum/plasma results described in the suppliers'

Background Thoroughly investigating single patient result errors may identify systemic, large-scale testing errors. The laboratory observed an event where a revision to a Total Bile Acid (TBA, Diazyme Laboratories, Inc.) patient result following a 22S quality control (QC) failure displayed a larger than expected difference (52 to 5mcmol/L). TBA is primarily used for diagnosis and monitoring of intrahepatic

Background An association between uric acid and kidney disease, glucose intolerance, high blood pressure, metabolic syndrome and cardiovascular disease has been recognized. It is the obligation of the Clinical Laboratory to have valid reference intervals (RI) for this marker. Each particular population has genetics and a diet that represents it, which cannot be extrapolated in many cases. The difficulty

Background Maintaining DNA integrity in blood samples, from transport to storage to processing, is crucial to the success of downstream applications, especially regarding diagnostic applications. Additionally, due to the invasive nature of collecting blood samples, minimizing resampling to avoid excess patient pain and cost of collection and transportation are important to consider. Having the option

Background The management of patients with suspected infections requires identification of the infectious etiology to determine appropriate use of antibiotics. However, differentiating viral from bacterial infection (and co-infection) is often challenging as clinical presentations can be similar and existing diagnostics sometimes fail to identify a clinically relevant pathogen. A host-response test

Background A critical step in immunoassay development is the selection of the appropriate capture and detection antibodies. The use of suboptimal antibodies can drastically affect the quality of the final assay. Traditional selection methods involve a direct testing of potential antibodies in the final assay setting; a time-consuming and material-intensive exercise that is often too complex to test

Background Critical results consist of laboratory test results that require immediate intervention or decision-making by the responsible medical team, as they pose a risk to the patient's life. To manage the process of communicating critical results, it is also necessary to define the indicators, goals and systematic comparability through benchmarking. Methods The performance of the indicators measuring

Background Pleural fluid pH has diagnostic, therapeutic, and prognostic implications in the management of pleural space infections and malignancy. Pleural fluid sample collection, transportation and processing are known for source of pre-analytical error which contribute to inaccuracy of measured pH with clinical implication to patient care. Some clinical practices observed locally include pleural

Background BioRad is a major provider of QC materials in the US with robust peer data, and Technopath has emerged as a recent competitor, especially on cost. While many factors are considered when selecting QC materials, primary considerations include commutability, matrix effects, decision levels, and acceptability limits. A couple studies comparing BioRad and Technopath QC performance were published

Background Children require reference intervals distinct from adults and, based on their unique developing physiology, several intervals are often required to accurately reflect the distribution of expected results in a healthy pediatric population. The establishment of pediatric reference intervals has proven challenging. While consenting adults volunteer to contribute their biological material towards

Background Beta-quantification (BQ) is the reference method for LDL-C but is not widely available. It is difficult, therefore, for clinical laboratories to independently assess the accuracy of their methods for either calculating or directly measuring LDL-C. Our goal was to investigate if an interrelationship between the tests in the standard lipid panel could be used to compare the performance of