Chapter 11 - Quality Control, Assurance, Identification, and Standards

Abstract

This chapter reviews individual sample quality control (QC), array- or plate-based QC, and then analytical testing platform or method QC. It also focuses on genotyping but address the special concerns of assays that are based on DNA sequencing. Further, it briefly reviews the proficiency testing and personnel qualifications that are relevant to the molecular diagnostics laboratory. QC and quality assurance (QA) measures are the collective actions involving policies, procedures, and corrective actions taken to ensure that clinical test results are accurate. QA monitoring is an important part of clinical laboratory testing and is used to help identify errors, or to identify adverse trends that could eventually result in errors. All of these actions span the gamut of pre-analytic (acquire the specimen), analytic (test the specimen), and post-analytic (report and transmit test results in an accurate and timely manner) phases of clinical testing. Clinical molecular genetic testing is a relatively new discipline when compared to routine clinical chemistry and clinical pathology. However, certain features are common to all laboratory testing, including: use of validated tests, use of independently validated reference materials, such as cell lines or certified DNA samples with known genotypes as positive controls, provision of adequate staff training, adherence to best practice guidelines, and finally laboratory licensures and accreditation.