MOLECULAR STUDY FACTOR V CAMBRIDGE, GEN FV (Arg306Gln), SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4238

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	22 days
Information:
Factor V mutant (factor V Cambridge, Arg306Thr) is associated with APC resistance and thrombosis. It is the only mutation other than factor V Leiden associated with this phenomenon. The degree of APC resistance associated with Thr306 is the same as that due to the Gln506 mutation. Persons who are at risk to carry the factor V mutation are those with a family history of early onset stroke, deep vein thrombosis, thromboembolism, pregnancy associated with thrombosis/embolism, hyperhomocystinemia, and multiple miscarriage. Individuals with the mutation are at increased risk of thrombosis in the setting of oral contraceptive use, trauma, and surgery. Direct DNA analysis of the Factor V and prothrombin (see below) mutations are now recommended for at-risk patients because of the importance of therapy and antithrombotic prophylaxis.
Links:
OMIM Entry - # 188055 - THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2
OMIM Entry - # 227400 - FACTOR V DEFICIENCY
OMIM Entry - - 612309 - COAGULATION FACTOR V; F5

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