Prothrombin

Molecular Test Requisition Specimen Information Billing Information    Contact Us    CPT Codes     Print Page

PROTHROMBIN

Gene Symbol: F2

Chromosomal Locus: 11p11.2
 
Protein: Prothrombin
 
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).
 
SPECIMEN REQUIREMENTS:
  • 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.

Note:
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.
 
INTERPRETATIVE DATA:
 
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.
 
Related Tests: Factor V (FV), MTHFR
 
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.
ADDITIONAL RESOURCES:
 
OMIM F2 Gene: - www.omim.org/entry/176930
OMIM Thrombophilia: - www.omim.org/entry/188050