Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders.
OBJECTIVE
To review the current state of the art regarding the role of the clinical laboratory in diagnostic testing for the factor V Leiden (FVL) thrombophilic mutation (and other protein C resistance disorders), and to generate, through literature reviews and opinions of recognized thought-leaders, expert consensus recommendations on methodology and diagnostic, prognostic, and management issues pertaining to clinical FVL testing.


METHODS
An initial thorough review of the medical literature and of current best clinical practices by a panel of 4 experts followed by a consensus conference review, editing, and ultimate approval by the majority of a panel of 28 additional coagulation laboratory experts.


CONCLUSIONS
Consensus recommendations were generated for topics of direct clinical relevance, including (1) defining those patients (and family members) who should (and should not) be tested for FVL; (2) defining the preferred FVL laboratory testing methods; and (3) defining the therapeutic, prophylactic, and management ramifications of FVL testing in affected individuals and their family members. As FVL is currently the most common recognized familial thrombophilia, it is hoped that these recommendations will assist laboratorians and clinicians caring for patients (and families) with this common mutation.
Press
Richard D
RD
Department of Pathology and Medical Genetics, Oregon Health & Science University, Portland 97201, USA. pressr@ohsu.edu
Bauer
Kenneth A
KA
Kujovich
Jody L
JL
Heit
John A
JA
D000026:Abortion, Habitual / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D000328:Adult; D001780:Blood Coagulation Tests / Q000379:methods; D019317:Evidence-Based Medicine; D005165:Factor V / Q000032:analysis* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D013923:Thromboembolism / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D019851:Thrombophilia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
C095381:factor V Leiden; D005165:Factor V