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. 2024 May;52(5):3000605241255568.
doi: 10.1177/03000605241255568.

Detection accuracy and clinical applications of DP-TOF mass spectrometry

Zhaohui Liu  1   2 , Juan Zhao  1 , Kai Cui  1 , Huimin Guo  3 , Zhikai Li  3 , Zhou Zhou  1
Affiliations

Detection accuracy and clinical applications of DP-TOF mass spectrometry

Zhaohui Liu et al. J Int Med Res. 2024 May.

Abstract

Objective: Matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) is currently used in clinical microbiology laboratories. This study aimed to determine whether dual-polarity time-of-flight mass spectrometry (DP-TOF MS) could be applied to clinical nucleotide detection.

Methods: This prospective study included 40 healthy individuals and 110 patients diagnosed with cardiovascular diseases. We used DP-TOF MS and Sanger sequencing to evaluate 17 loci across 11 genes associated with cardiovascular drug responses. In addition, we used DP-TOF MS to test 998 retrospectively collected clinical DNA samples with known results.

Results: A, T, and G nucleotide detection by DP-TOF MS and Sanger sequencing revealed 100% concordance, whereas the C nucleotide concordance was 99.86%. Genotyping based on the results of the two methods showed 99.96% concordance. Regarding clinical applications, DP-TOF MS yielded a 99.91% concordance rate for known loci. The minimum detection limit for DNA was 0.4 ng; the inter-assay and intra-assay precision rates were both 100%. Anti-interference analysis showed that aerosol contamination greater than 1013 copies/µL in the laboratory environment could influence the results of DP-TOF MS.

Conclusions: The DP-TOF MS platform displayed good detection performance, as demonstrated by its 99.96% concordance rate with Sanger sequencing. Thus, it may be applied to clinical nucleotide detection.

Keywords: Time-of-flight mass spectrometry; cardiovascular disease; drug response-associated gene; molecular diagnostics; multigene detection; nucleotide detection; personalized medicine; pharmacogenetics; precision medicine; verification.

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Conflict of interest statement

Declaration of conflicting interestThe authors declare that there is no conflict of interest.

Figures

Figure 1.
Figure 1.
Allele frequencies of 17 loci in retrospective samples. Blue represents DP-TOF reference allele frequency; red represents NCBI reference allele frequency. DP-TOF, dual-polarity time-of-flight; NCBI, National Center for Biotechnology Information.
See this image and copyright information in PMC

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