Cowan Tina M, Strovel Erin T
Stanford University Medical Center, Palo Alto, California, USA.
Curr Protoc Hum Genet. 2008 Oct;Chapter 17:Unit 17.7. doi: 10.1002/0471142905.hg1707s59.
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.
高质量的生化遗传学检测对于先天性代谢缺陷患者的正确诊断和管理至关重要。准确的诊断是正确治疗、持续管理以及最终实现最佳临床结果的先决条件。生化遗传学实验室的质量检测通过遵守管理临床实验室检测的联邦法规来进行管理。然而，由于这些法规并非专门为生化遗传学实验室编写，许多专业组织已制定实践指南以弥补联邦法规中的空白。本单元将回顾这些适用于生化遗传学实验室质量管理的法规和指南，包括检测验证、人员标准、能力验证测试以及全面质量管理（包括质量保证、质量控制和质量改进）。它还提供了可用于记录检测验证、人员培训、质量控制和质量保证的方案和表格示例。
