Prothrombin (F2) G20210A Mutation
0056060
 
Ordering Recommendation
Order to detect prothrombin G20210A mutation.
Mnemonic
PT PCR
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Sun-Sat
Reported
2-5 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
Negative: This sample is negative for the factor II, prothrombin 20210A mutation.
Interpretive Data
Background Information for Prothrombin (F2) G20210A Mutation:
Characteristics:
The Factor II, G20210A mutation is a common genetic risk factor for venous thrombosis associated with elevated prothrombin levels leading to increased rates of thrombin generation and excessive growth of fibrin clots. The expression of Factor II thrombophilia is impacted by coexisting genetic thrombophilic disorders, acquired thrombophilic disorders (eg, malignancy, hyperhomocysteinemia, high factor VIII levels), and circumstances including: pregnancy, oral contraceptive use, hormone replacement therapy, selective estrogen receptor modulators, travel, central venous catheters, surgery, and organ transplantation.
Incidence:
Approximately 2-5 percent of Caucasians and 0.3 percent of African Americans are heterozygous; homozygosity occurs in 1 in 10,000 individuals.
Inheritance:
Incomplete autosomal dominant.
Penetrance:
The risk of thrombosis is increased 2-4 fold for heterozygotes and further increased for homozygotes.
Cause:
Homozygosity or heterozygosity for F2 c.20210G>A (G20210A).
Mutation Tested:
F2 c.20210G>A (G20210A).
Clinical Sensitivity for Venous Thrombosis
: Approximately 10 percent.
Methodology:
Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. F2 gene mutations, other than G20210A, will not be detected.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81240
Components
Component Test Code*Component Chart Name
0056060Prothrombin (F2) G20210A Mutation
2001334PT PCR Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References
  • Factor II (PT) 20210 Mutation (Prothrombin (F2) G20210A Mutation)