UNIT 17.7 Management and Quality Assurance in the Biochemical Genetics Laboratory

  1. Tina M. Cowan1,
  2. Erin T. Strovel2

Published Online: 1 OCT 2008

DOI: 10.1002/0471142905.hg1707s59

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Cowan, T. M. and Strovel, E. T. 2008. Management and Quality Assurance in the Biochemical Genetics Laboratory. Current Protocols in Human Genetics. 59:17.7:17.7.1–17.7.12.

Author Information

  1. 1

    Stanford University Medical Center, Palo Alto, California

  2. 2

    University of Maryland School of Medicine, Baltimore, Maryland

Publication History

  1. Published Online: 1 OCT 2008
  2. Published Print: OCT 2008


High-quality biochemical genetics testing is critical for proper diagnosis and management of patients with inborn errors of metabolism. An accurate diagnosis is a prerequisite for proper treatment, ongoing management, and ultimately, for optimal clinical outcome. Quality testing in the biochemical genetics laboratory is managed via adherence to federal regulations that govern clinical laboratory testing. However, because these were not specifically written for biochemical genetics laboratories, a number of professional organizations have developed practice guidelines to address gaps in the federal code. This unit reviews these regulations and guidelines as they apply to quality management of the biochemical genetics laboratory, including test validation, personnel standards, proficiency testing, and overall quality management (including quality assurance, quality control, and quality improvement). It also provides examples of protocols and forms that can be adapted for the documentation of test validation, personnel training, quality control, and quality assurance. Curr. Protoc. Hum. Genet. 59:17.7.1-17.7.12. © 2008 by John Wiley & Sons, Inc.


  • biochemical genetics;
  • humans;
  • genetics;
  • medical;
  • quality assurance;
  • health care;
  • quality control;
  • laboratory personnel/standards