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Updated: Feb 25, 2026
Dried Blood and Serum Spots As A Useful Tool for Sample Storage to Evaluate Cancer Biomarkers
Published on: June 11, 2018
Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem
Jicheng Qian1, Xiaonan Wang1, Jia Liu1
1.
Background:
Tandem mass spectrometry (TMS)-based newborn screening has been proven successful as one of the public healthcare programs, although the practicability has not yet been specifically addressed.
Methods:
Sixty residual dried blood spot (DBS) specimens from confirmation/diagnosis-insufficient cases discovered by TMS screening were analyzed by targeted next generation sequencing (TNGS) assay.
Results:
In total, 26, 11, 9, and 14 cases were diagnosed as positive, high risk, low risk, and negative, respectively.
Conclusions:
Applying the DBS-based TNGS assay for the accurate and rapid diagnosis of inborn errors of metabolism (IEMs) is feasible, competent, and advantageous, enabling a simplified TMS screening-based, TNGS assay-integrated newborn screening scheme highlighting an efficient, executable, and one-step screening-to-diagnosis workflow.
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