Establishing and evaluating an auto-verification system of thalassemia gene detection results

  • Xiaozhe Lin
  • Bizhen Cheng
  • Yingmu Cai
  • Xiaoyang Jiao
  • Xinran Yang
  • Qiaoxin ZhangEmail author
  • Yongni Wang
Original Article


The manual verification of gene tests is time-consuming and error prone. In this study, we try to explore a high-efficiency, clinically useful auto-verification system for gene detection of thalassemia. A series of verification elements were rooted in the auto-verification system. Consistency check was applied initially as one of the essential elements in our study. One hundred twenty-four archived cases were used to choose the consistency-check rules’ indices from routine blood examination and hemoglobin electrophoresis by the receiver operating characteristic curves. Rule 1 and rule 2 established by the chosen indices were compared by their passing rate, consistency with manual validation, and error rate. Finally, 748 cases were used for verifying the system’s feasibility by evaluating the passing rate, turn-around time (TAT), and error rate. The rule 2 had a higher passing rate (67.7% vs. 50.8%) and consistency (0.623 vs. 0.364) than the rule 1 with an error rate of zero. In a “live” valuation, the auto-verification system can reduce the TAT and error rate of verification by 51.5% and 0.13%, respectively, with a high passing rate of 82.8%. The auto-verification system for gene detection of thalassemia in this study can shorten the validation time, reduce errors, and enhance efficiency.


Auto-verification system Thalassemia Consistency check Gene detection 



We are grateful to Yongxin Qiu, from Beckman Coulter Inc. and Gaozhe Zheng, the senior technicians in the Clinical Chemistry Core Laboratory, for computer and DM2 technical support. Additionally, we thank Wei Li and Nuan Chen, the senior clinical laboratory physicians in the Clinical Gene Laboratory, for result verification.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethics statement

This study was performed under the Institutional Review Board approvals from The First Affiliated Hospital of Shantou University Medical College and conducted in accordance with the Declaration of Helsinki. Written informed consents had been obtained from all patients and controls.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.The Department of Clinical LaboratoryThe First Affiliated Hospital of Shantou University Medical College, Shantou UniversityShantouChina
  2. 2.Cell Biology and Genetics Department of Shantou University Medical CollegeShantouChina

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