Gene Symbol: F2
Chromosomal Locus: 11p11.2
Pseudonyms: Coagulation Factor 2
TURNAROUND TIME: 5 business days
TESTING METHODOLOGY: Detection of a point mutation of G>A at c.20210 by analysis on the Verigene system (FDA approved).
- Collect: Prefer two 5ml whole blood EDTA (lavender top) tube.
- Min. Collection: 0.7 ml whole blood EDTA.
- Transport: blood EDTA at Room Temp shipped regular next day air (No Saturday delivery; store specimen at 4°C and ship Monday).
- Stability: Ambient: up to 7 days; Refrigerated: 2 weeks. Frozen: unacceptable
- Unacceptable Conditions: Serum. Frozen or severely hemolyzed blood. Clotted blood.
- Prenatal testing: Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask. Maternal blood sample is required for maternal cell contamination studies.
A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.
Counseling and informed consent are recommended for genetic testing; Center for Genetic Testing at Saint Francis consent form
is available as a resource but not required.
Incidence: 1 in 1,000 people
Inheritance: Heterozygosity is inherited in an autosomal dominant manner and increases risk for VTEs (venous thromboembolims) 2- 5 fold. Homozygosity results in an increased risk but it is unclear how much more risk is gained from the second copy. Heterozygosity in combination with a FV mutation gives a 10-20 fold increased risk of VTE.
Disease Characteristics: Recurrent VTE (venous thromboembolism) especially DVT (deep vein thrombosis) in the legs and upper extremities. Also, possibly a risk of pregnancy loss and complications such as preeclampsia, intrauterine growth restriction, and placental abruption.
Clinical Sensitivity: 1-3% of patients presenting with a VTE (venous thromboembolism).
INDICATIONS FOR USE:
- To determine the potential cause of unexplained or recurrent thrombosis in children or adults.
- Patients undergoing surgery especially the potentially high-risk class of women taking estrogen supplements or smoking.
- Evaluation of individuals before initiation of oral contraceptives.
- Evaluation of women with recurrent pregnancy loss.