Validation of NGS-Based DNA Testing and Implementation of Quality Control Procedures

  • Victor Wei Zhang
  • Lee-Jun C. Wong


The rapid adoption of next-generation sequencing (NGS) (also known as massively parallel sequencing; MPS) techniques has revolutionized the way molecular diagnosis is performed in a clinical diagnostic laboratory. Hundreds to thousands of genes can be analyzed simultaneously, and samples can be multiplexed and sequenced in parallel with deep coverage. To bring such a complex technology to clinical diagnostic laboratories, limitations and challenges should be recognized when designing and implementing assays for routine clinical use. While most NGS platforms can generate enormous amount of data in a massively parallel manner, the complexities of test validation and the implementation of quality control procedures have posed tremendous challenges on quality assurance. A quality assurance program is an integral part of clinical laboratory operations, in particular for laboratories that are adopting new technologies to provide state-of-the-art genetic testing services. In this chapter, we describe the steps taken in implementation of test validation and quality control procedures in our clinical molecular diagnostic laboratory.


Sanger Sequencing Quality Control Procedure Quality Assurance Program Laboratory Information Management System Sequencing Error Rate 
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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Medical Genetics Laboratories, Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA

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