Factor V Leiden and factor II c.*97G>A (formerly referred to as prothrombin 20210G>A) are the two most common genetic variants associated with venous thromboembolism (VTE). Testing for these variants is one of the most common referrals in clinical genetics laboratories. While the methodologies for testing these two variants are relatively straightforward, the clinical implementation can be complicated with regard to test indications, risk assessment of occurrence and recurrence of VTE, and related genetic counseling. This document provides an overview of VTE, information about the variants and their influence on risk, considerations before initiating genetic testing, and the clinical and analytical sensitivity and specificity of the tests. Key information that should be included in the laboratory report is also provided. Disease-specific statements are intended to augment the general American College of Medical Genetics and Genomics (ACMG) technical standards for clinical genetics laboratories. Individual laboratories are responsible for meeting the Clinical Laboratory Improvement Amendments (CLIA)/College of American Pathologists (CAP) quality assurance standards with respect to appropriate sample documentation, assay validation, general proficiency testing, and quality control measures. This 2018 edition of the ACMG technical standard updates and supersedes the 2005 edition on this topic. It is designed to be a checklist for genetic testing professionals who are already familiar with the disease and the methods of analysis.

中文翻译：

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静脉血栓栓塞实验室检测（因子 V Leiden 和因子 II c.*97G>A），2018 年更新：美国医学遗传学和基因组学学院 (ACMG) 的技术标准。

因子 V Leiden 和因子 II c.*97G>A（以前称为凝血酶原 20210G>A）是与静脉血栓栓塞 (VTE) 相关的两种最常见的遗传变异。测试这些变异是临床遗传学实验室中最常见的转诊之一。虽然测试这两种变体的方法相对简单，但在测试适应症、VTE 发生和复发的风险评估以及相关的遗传咨询方面，临床实施可能会很复杂。本文件概述了 VTE、有关变异的信息及其对风险的影响、开始基因检测之前的注意事项，以及检测的临床和分析敏感性和特异性。还提供了应包含在实验室报告中的关键信息。针对特定疾病的声明旨在增强美国医学遗传学和基因组学学院 (ACMG) 临床遗传学实验室的一般技术标准。各个实验室负责满足临床实验室改进修正案 (CLIA)/美国病理学家学院 (CAP) 在适当的样本文件、分析验证、一般能力测试和质量控制措施方面的质量保证标准。2018 年版 ACMG 技术标准更新并取代了 2005 年版关于该主题的内容。它旨在成为已经熟悉该疾病和分析方法的基因检测专业人员的清单。