Table 14Strength of the evidence regarding Key Question 3: clinical validity

Factor V LeidenProthrombin G20210A
ProbandsPooled Odds Ratio [95% CI]Evidence GradeProbandsPooled Odds Ratio [95% CI]Evidence Grade
Heterozygous1.56 [1.14–2.12]Moderate grade, predictiveHeterozygous1.45 [0.96–2.2]Moderate grade, not predictive
Homozygous2.65 [1.2–6]Moderate grade, predictiveHomozygous------
Doubly heterozygous4.8 [0.50–46]Insufficient
Family membersPooled Odds Ratio [95% CI]Evidence GradeFamily membersPooled Odds Ratio [95% CI]Evidence Grade
Heterozygous3.4 [2.4–4.9]Moderate grade, predictiveHeterozygous1.9 [0.35–10]Insufficient
Homozygous18 [7.8–40]High grade, predictiveHomozygous---
Doubly heterozygous6.7 [2.9–15]Low grade, predictive
Pregnant family membersOdds Ratios, Not Pooled [95% CI]Evidence GradePregnant Family MembersOdds Ratios, Not Pooled [95% CI]Evidence Grade
Heterozygous5.4[0.65–46]; 3.4[0.35–33]InsufficientHeterozygous3.0 [0.12–74]; 2.3 [0.21–25]Insufficient
Homozygous16 [0.9 – 278]; 41[5.5–419]Low grade, predictiveHomozygous---
Doubly heterozygous4.1 [0.37–44]; 15.3 [1–232]Insufficient

From: 4, Discussion

Cover of Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism
Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism.
Evidence Reports/Technology Assessments, No. 180.
Segal JB, Brotman DJ, Emadi A, et al.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.