ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 33 citations in OpenAlex.
- Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.International journal of molecular sciences · 2025Article
- Application of multigene panel testing for bleeding, thrombotic, and platelet disorders in patients and the general population in China.Molecular biomedicine · 2025Article
- Genome-wide association study-driven identification of thrombomodulin and factor V as the best biomarker combination for deep vein thrombosis.Genomics & informatics · 2025Article
- Case Report: IVC-agenesis and FVL mutation; successful DVT/PE treatment with direct oral anticoagulation (factor Xa inhibitor).Frontiers in cardiovascular medicine · 2025Article
- Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices.Frontiers in pharmacology · 2024Article
- Acute Myocardial Infarction in Patients with Hereditary Thrombophilia-A Focus on Factor V Leiden and Prothrombin G20210A.Life (Basel, Switzerland) · 2023Review
- Article
- Testing for Factor V Leiden (FVL) and Prothrombin G20210A Genetic Variants.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Loop-mediated isothermal amplification (LAMP)-based method for detecting factor V Leiden and factor II G20210A common variants.Journal of thrombosis and thrombolysis · 2020Article
- Direct-to-consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience.Molecular genetics & genomic medicine · 2020Article
- Frequency of thrombophilia associated genes variants: population-based study.BMC medical genetics · 2020Article
- Education Case: Hereditary Thrombophilia With Double Heterozygous Factor V Leiden and Factor II c.*97G>A Mutations.Academic pathologyArticle
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
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