Table 1List of additional exclusion criteria by Key Question

QuestionCriteriaExplanation
KQ2
  • Published prior to 2000
  • Evaluated only APC resistance
  • Evaluated only DNA extraction methods
  • Did not report concordance, discordance, or reproducibility
  • Evaluated fewer than 10 samples
KQ3
  • Did not report results separately for FVL and/or prothrombin G20210A
  • Studied fewer than 10 probands or fewer than 10 family members
  • Did not objectively confirm VTE event
  • Was a case-control or retrospective cohort study of probands
  • Patients described in another publication
We opted to exclude retrospective studies of probands, since this study design is more subject to biases than is a prospective design. We opted to include retrospective studies of family members because we expected to have few, if any, prospective studies.
KQ4
  • Did not study probands or family members
  • Fewer than 80% of the probands had the FVL or prothrombin G20210A mutations
  • Fewer than 80% of the probands had VTE
We required that 80% of the study population had the mutations of interest if it was a study including family members with other hypercoaguable conditions and results were not reported separately by mutation. We required that 80% of the probands had VTE if it was a study of individuals with mutations, in keeping with our stated population of interest.

APC = activated protein C; DNA = deoxyribonucleic acid; FVL = Factor V Leiden; KQ = Key Question; VTE = venous thromboembolism

From: 2, Methods

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.

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