Clinical Validation of a 106-SNV MALDI-ToF MS Pharmacogenomic Panel

2020 ◽  
Vol 5 (3) ◽  
pp. 454-466
Author(s):  
Grace R Williams ◽  
Leanne Cook ◽  
Lionel D Lewis ◽  
Gregory J Tsongalis ◽  
Robert D Nerenz
Keyword(s):  
Drug Response ◽  
Clinical Laboratory ◽  
Cost Effective ◽  
Accurate Method ◽  
Care Providers ◽  
Maldi Tof Ms ◽  
Maldi Tof ◽  
Assay Precision ◽  
Custom Panel ◽  
Tof Ms

Abstract Background Laboratorians have the opportunity to help minimize the frequency of adverse drug reactions by implementing pharmacogenomic testing and alerting care providers to possible patient/drug incompatibilities before drug treatment is initiated. Methods combining PCR with MALDI-ToF MS have allowed for sensitive, economical, and multiplexed pharmacogenomic testing results to be delivered in a timely fashion. Method This study evaluated the analytical performance of the Agena Biosciences iPLEX® PGx 74 panel and a custom iPLEX panel on a MassARRAY MALDI-TOF MS instrument in a clinical laboratory setting. Collectively, these panels evaluate 112 SNVs across 34 genes implicated in drug response. Using commercially available samples (Coriell Biorepository) and in-house extracted DNA, we determined ideal reaction conditions and assessed accuracy, precision, and robustness. Results Following protocol optimization, the Agena PGx74 and custom panels demonstrated 100% concordance with the 1000 Genomes Project Database and clinically validated hydrolysis probe genotyping assays. 100% concordance was also observed in all assessments of assay precision when appropriate QC metrics were applied. Conclusions Significant development time was required to optimize sample preparation and instrumental analysis and 3 assays were removed due to inconsistent performance. Following modification of the manufacturer’s protocol and instituting manual review of each assay plate, the Agena PGx74 and custom panel constitute a cost-effective, robust, and accurate method for clinical identification of 106 SNVs involved in drug response.

scholarly journals A diagnostic challenge in clinical laboratory: Misidentification of Neisseria subflava as Neisseria meningitidis by MALDI-TOF MS

2020 ◽  
pp. 1-3
Author(s):  
Tugce Unalan-Altintop ◽  
Alper Karagoz ◽  
Gulsen Hazirolan
Keyword(s):  
Neisseria Meningitidis ◽  
Clinical Laboratory ◽  
Cost Effective ◽  
Diagnostic Challenge ◽  
Accurate Identification ◽  
Maldi Tof Ms ◽  
Maldi Tof ◽  
Neisseria Subflava ◽  
Effective Diagnosis ◽  
Tof Ms

Abstract MALDI-TOF MS provides fast, easy to perform and cost-effective diagnosis in clinical microbiology laboratories, however in some cases results of MALDI-TOF MS should be confirmed with additional tests. This confirmation is especially important for causes of life-threatening infections like Neisseria meningitidis. In our laboratory, three isolates were identified as N. meningitidis by Bruker MALDI Biotyper (BD, USA) between April 2018 and March 2019 from clinical specimens of blood, sputum, and urine. 16S rRNA sequencing was performed for further investigation. Two of the isolates were identified as Neisseria subflava and only one was confirmed as N. meningitidis by sequencing. These results show that MALDI-TOF MS is not always reliable in the diagnosis of N. meningitidis and clinical microbiologists should confirm these results with additional tests. Also, clinical correlations should be determined. Accurate identification of this microorganism is very important because of the necessity of prophylactic antimicrobial usage and biosafety precautions. Enlarged databases of Neisseria species are needed to overcome this problem.

scholarly journals Evaluation of the system Axima/Saramis MALDI-TOF MS bioMérieux in a clinical laboratory

2012 ◽  
Vol 27 (1) ◽  
Author(s):  
Romano Mattei ◽  
Claudia Vicario ◽  
Maria Nardone ◽  
Arnaldo Savarino
Keyword(s):  
Clinical Laboratory ◽  
Maldi Tof Ms ◽  
Maldi Tof ◽  
Tof Ms

S1. A modified method for blood culture direct testing using 2% SDS detergent and heat. v1

2021 ◽  
Author(s):  
kwenrich not provided
Keyword(s):  
Blood Culture ◽  
Clinical Laboratory ◽  
Sodium Dodecyl ◽  
Agar Plate ◽  
Drying Methods ◽  
Maldi Tof Ms ◽  
Maldi Tof ◽  
Modified Method ◽  
Flight Mass Spectrometry ◽  
Tof Ms

Matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) can accurately identify bloodstream pathogens directly from positive blood culture bottles without the need to wait for agar plate growth. In this study, 2% sodium dodecyl sulfate (SDS) detergent was assessed to determine its benefit in the removal of interfering cellular components for testing on the Bruker Microflex LT MALDI-TOF MS instrument with the Biotyper® CA system. Additionally, the use of a heat-drying step was evaluated for performance improvement over conventional air-drying of samples on the MALDI steel target plate. The modified method with 2% SDS outperformed the in-house protocol in overall success with percentage scores of 91% and 55% ( respectively). The data results support the potential of applying a simple lysing step to an existing in-house extraction method and the use of modified drying methods. The modified techniques evaluated in this study proved beneficial for identifying most blood culture pathogens encountered in the clinical laboratory, and they can allow for reduced turnaround times and more appropriate antibiotic treatments.

scholarly journals Detection of Carbapenemase-Producing Enterobacteriaceae in the Baltic Countries and St. Petersburg Area

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Anastasia Pavelkovich ◽  
Arta Balode ◽  
Petra Edquist ◽  
Svetlana Egorova ◽  
Marina Ivanova ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Cost Effective ◽  
Maldi Tof Ms ◽  
E Coli ◽  
Maldi Tof ◽  
Baltic Countries ◽  
Exact Data ◽  
Cost Effective Method ◽  
The Baltic ◽  
Tof Ms

The spread of carbapenemase-producing Enterobacteriaceae is a global problem; however, no exact data on the epidemiology of carbapenemase in the Baltic countries and St. Petersburg area is available. We aimed to evaluate the epidemiology of carbapenemase-producingEscherichia coliandKlebsiella pneumoniaein the Baltic States and St. Petersburg, Russia, and to compare the different methods for carbapenemase detection. From January to May 2012, allK. pneumoniae  n=1983andE. coli  n=7774clinical isolates from 20 institutions in Estonia, Latvia, Lithuania, and St. Petersburg, Russia were screened for carbapenem susceptibility. The IMP, VIM, GIM, NDM, KPC, and OXA-48 genes were detected using real-time PCR and the ability to hydrolyze ertapenem was determined using MALDI-TOF MS. Seventy-seven strains were found to be carbapenem nonsusceptible. From these, 15K. pneumoniaestrains hydrolyzed ertapenem and carried theblaNDMgene. All of these strains carried integron 1 and most carried integron 3 as well as genes of the CTX-M-1 group. No carbapenemase-producingE. coliorK. pneumoniaestrains were found in Estonia, Latvia, or Lithuania; however, NDM-positiveK. pneumoniaewas present in the hospital in St. Petersburg, Russia. A MALDI-TOF MS-based assay is a suitable and cost-effective method for the initial confirmation of carbapenemase production.

Identification of dermatophytes by MALDI-TOF MS technology in the clinical laboratory

2019 ◽  
Vol 440 ◽  
pp. 32-36 ◽  
Author(s):  
Maya Azrad ◽  
Victoria Freidus ◽  
Riad Kassem ◽  
Avi Peretz
Keyword(s):  
Clinical Laboratory ◽  
Maldi Tof Ms ◽  
Maldi Tof ◽  
Tof Ms

scholarly journals Rapid and cost-effective identification of Bartonella species using mass spectrometry

2009 ◽  
Vol 58 (9) ◽  
pp. 1154-1159 ◽  
Author(s):  
Pierre-Edouard Fournier ◽  
Carine Couderc ◽  
Sylvain Buffet ◽  
Christophe Flaudrops ◽  
Didier Raoult
Keyword(s):  
Mass Spectrometry ◽  
Species Identification ◽  
Chemical Reactivity ◽  
Bacterial Species ◽  
Cost Effective ◽  
Molecular Techniques ◽  
Maldi Tof Ms ◽  
Maldi Tof ◽  
Flight Mass Spectrometry ◽  
Tof Ms

Bacteria of the genus Bartonella are emerging zoonotic bacteria recognized in a variety of human diseases. Due to their poor chemical reactivity, these fastidious bacteria are poorly characterized using routine phenotypic laboratory tests. Identification is usually achieved using molecular techniques that are time-consuming, expensive and technically demanding. Recently, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) has emerged as a new technique for bacterial species identification. This study evaluated the use of MALDI-TOF MS for rapid genus and species identification of Bartonella species. Reference strains representing 17 recognized Bartonella species were studied. For each species, MS spectra for four colonies were analysed. The consensus spectrum obtained for each species was unique among spectra obtained for 2843 bacteria within the Bruker database, including 109 alphaproteobacteria. Thirty-nine additional blind-coded Bartonella strains were correctly identified at the species level, including 36 with a significant score. Altogether, these data demonstrate that MS is an accurate and reproducible tool for rapid and inexpensive identification of Bartonella species.

scholarly journals An Improved In-house MALDI-TOF MS Protocol for Direct Cost-Effective Identification of Pathogens from Blood Cultures

2017 ◽  
Vol 8 ◽  
Author(s):  
Menglan Zhou ◽  
Qiwen Yang ◽  
Timothy Kudinha ◽  
Liying Sun ◽  
Rui Zhang ◽  
...  
Keyword(s):  
Direct Cost ◽  
Cost Effective ◽  
Blood Cultures ◽  
Maldi Tof Ms ◽  
Maldi Tof ◽  
Tof Ms

scholarly journals Applications of MALDI Mass Spectrometry in Clinical Chemistry

2016 ◽  
Vol 62 (1) ◽  
pp. 134-143 ◽  
Author(s):  
Mark W Duncan ◽  
Dobrin Nedelkov ◽  
Ryan Walsh ◽  
Stephen J Hattan
Keyword(s):  
Mass Spectrometry ◽  
Clinical Chemistry ◽  
Cost Effective ◽  
Maldi Mass Spectrometry ◽  
Ease Of Use ◽  
Mass Detection ◽  
Maldi Tof Ms ◽  
Maldi Tof ◽  
Tof Ms

Abstract BACKGROUND MALDI-TOF mass spectrometry (MS) is set to make inroads into clinical chemistry because it offers advantages over other analytical platforms. These advantages include low acquisition and operating costs, ease of use, ruggedness, and high throughput. When coupled with innovative front-end strategies and applied to important clinical problems, it can deliver rapid, sensitive, and cost-effective assays. CONTENT This review describes the general principles of MALDI-TOF MS, highlights the unique features of the platform, and discusses some practical methods based upon it. There is substantial potential for MALDI-TOF MS to make further inroads into clinical chemistry because of the selectivity of mass detection and its ability to independently quantify proteoforms. SUMMARY MALDI-TOF MS has already transformed the practice of clinical microbiology and this review illustrates how and why it is now set to play an increasingly important role in in vitro diagnostics in particular, and clinical chemistry in general.

scholarly journals COVID-19, Chikungunya, Dengue and Zika Diseases: An Analytical Platform Based on MALDI-TOF MS, IR Spectroscopy and RT-qPCR for Accurate Diagnosis and Accelerate Epidemics Control

2021 ◽  
Vol 9 (4) ◽  
pp. 708
Author(s):  
Jéssica Costa ◽  
Eugénio C. Ferreira ◽  
Cledir Santos
Keyword(s):  
Ir Spectroscopy ◽  
Clinical Symptoms ◽  
Cost Effective ◽  
Accurate Diagnosis ◽  
Adequate Treatment ◽  
Maldi Tof Ms ◽  
Maldi Tof ◽  
Epidemiologic Profile ◽  
Effective Diagnosis ◽  
Tof Ms

COVID-19 and arboviruses (ARBOD) epidemics co-occurrence is a great concern. In tropical and subtropical regions, ARBOD diseases such as chikungunya, dengue, and Zika are frequent. In both COVID-19 and ARBOD cases, an accurate diagnosis of infected patients is crucial to promote adequate treatment and isolation measures in COVID-19 cases. Overlap of clinical symptoms and laboratory parameters between COVID-19 and ARBOD present themselves as an extra challenge during diagnosis. COVID-19 diagnosis is mainly performed by quantitative reverse polymerase chain reaction (RT-qPCR), while ARBOD diagnosis is performed by serology, detection of antigen or antibody, and molecular diagnosis. In this review, the epidemiologic profile of arboviruses and SARS-CoV-2 is analyzed, and potential risks of symptom overlap is addressed. The implementation of an analytical platform based on infrared (IR) spectroscopy, MALDI-TOF mass spectrometry, and RT-qPCR is discussed as an efficient strategy for a fast, robust, reliable, and cost-effective diagnosis system even during the co-occurrence of virus outbreaks. The spectral data of IR spectroscopy and MALDI-TOF MS obtained from COVID-19 infected and recovered patients can be used to build up an integrated spectral database. This approach can enable us to determine quickly the groups that have been exposed and have recovered from COVID-19 or ARBOD, avoiding misdiagnoses.

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