Notice: Users may be experiencing issues with displaying some pages on stanfordhealthcare.org. We are working closely with our technical teams to resolve the issue as quickly as possible. Thank you for your patience.
 

Learn about the flu shot, COVID-19 vaccine, and our masking policy »

Stanford Health Care

Management and quality assurance in the biochemical genetics laboratory. Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] Cowan, T. M., Strovel, E. T. 2008; Chapter 17: Unit 17 7-?

Abstract

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.

View details for DOI 10.1002/0471142905.hg1707s59

View details for PubMedID 18972371