Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories

Genet Med. 2005 Jul-Aug;7(6):444-53. doi: 10.1097/01.gim.0000172641.57755.3a.


These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to this statement does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical molecular geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the laboratory record the rationale for any significant deviation from these standards and guidelines.

Publication types

  • Guideline
  • Practice Guideline

MeSH terms

  • Factor V / genetics*
  • Genetic Predisposition to Disease
  • Genetic Services
  • Genetic Testing / standards*
  • Humans
  • Laboratories / standards*
  • Prothrombin / genetics*
  • Quality Assurance, Health Care*
  • Thromboembolism / diagnosis*
  • Thromboembolism / genetics


  • factor V Leiden
  • Factor V
  • Prothrombin