Richards Carolyn Sue, Bradley Linda A, Amos Jean, Allitto Bernice, Grody Wayne W, Maddalena Anne, McGinnis Matthew J, Prior Thomas W, Popovich Bradley W, Watson Michael S, Palomaki Glenn E
Molecular Subcommittee of the Laboratory Quality Assurance Committee, American College of Medical Genetics, 9650 Rockville Pike, Bethesda, MD 20914-3998, USA.
Genet Med. 2002 Sep-Oct;4(5):379-91. doi: 10.1097/00125817-200209000-00010.
One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop standards and guidelines for clinical genetics laboratories, including cytogenetics, biochemical, and molecular genetics specialties. This document was developed under the auspices of the Molecular Subcommittee of the Laboratory QA Committee by the Cystic Fibrosis (CF) Working Group. It was placed on the "fast track" to address the preanalytical, analytical, and postanalytical quality assurance practices of laboratories currently providing testing for CF. Due to the anticipated impact of the ACMG recommendation statement endorsing carrier testing of reproductive couples, it was viewed that CF testing would increase in volume and that the number of laboratories offering CF testing would also likely increase. Therefore, this document was drafted with the premise of providing useful information gained by experienced laboratory directors who have provided such testing for many years. In many instances, "tips" are given. However, these guidelines are not to be interpreted as restrictive or the only approach but to provide a helpful guide. Certainly, appropriately trained and credentialed laboratory directors have flexibility to utilize various testing platforms and design testing strategies with considerable latitude. We felt that it was essential to include technique-specific guidelines of several current technologies commonly used in laboratories providing CF testing, since three of the four technologies discussed are available commercially and are widely utilized. We take the view that these technologies will change, and thus this document will change with future review.
美国医学遗传学与基因组学学会（ACMG）实验室质量保证（QA）委员会的一项任务是为临床遗传学实验室制定标准和指南，包括细胞遗传学、生化遗传学和分子遗传学专业。本文件由囊性纤维化（CF）工作组在实验室QA委员会分子小组委员会的主持下制定。它被列入“快车道”，以解决目前提供CF检测的实验室在分析前、分析中和分析后的质量保证实践问题。由于ACMG支持对育龄夫妇进行携带者检测的推荐声明预计会产生影响，预计CF检测量将会增加，提供CF检测的实验室数量也可能增加。因此，本文件起草的前提是提供由多年来一直提供此类检测的经验丰富的实验室主任所获得的有用信息。在许多情况下，还给出了“提示”。然而，这些指南不应被解释为具有限制性或唯一的方法，而只是提供一个有用的指导。当然，经过适当培训并具备资质的实验室主任有灵活性利用各种检测平台并在很大程度上设计检测策略。我们认为有必要纳入目前在提供CF检测的实验室中常用的几种技术的特定技术指南，因为所讨论的四种技术中有三种可商购并被广泛使用。我们认为这些技术将会改变，因此本文件将随着未来的审查而改变。
