14 days from receipt of specimen in performing lab
Methodology
The cobas® Factor II and Factor V Test uses real-time PCR analysis of genomic DNA samples isolated from K2EDTA whole blood to determine the genotype of the Factor II gene at position 20210 and/or the genotype of the factor V gene at position 1601. The test is performed on the cobas z 480 analyzer. A positive and negative control are included in each run to confirm the validity of the run.
Use
Thrombophilia is a condition with a predisposition to develop thrombosis (eg, blood clots) due to either an inherited or acquired defect in the coagulation system. Blood clots may form in either the venous or arterial vascular system and can lead to Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE). Collectively, DVT and PE are known as Venous Thromboembolism (VTE). VTE is the third most common cause of cardiovascular death after acute coronary syndrome and stroke. Inherited thrombophilia is most frequently caused by a Factor V or Factor II (Prothrombin) variant. Molecular genetic testing for the factor II (F2) c.*97G>A variant is recommended as this variant is present in 1% to 3% of the general population and its involvement in VTE is well established. Evaluation of a patient’s risk for hereditary thrombophilia through a Factor II genotyping test is critical for diagnosis and clinical management of patients with thrombophilia.
Limitations
There are many other causes of thrombotic disease, including heritable variants in the genes encoding proteins C, S, and antithrombin III. This test result does not exclude the possibility that this individual also carries some other variant or defect in the coagulation/anticoagulation system, in addition to the factor II variant. The presence of one or more of these other defects can have a synergistic interaction with the factor ®II variant to produce an even higher risk of thrombosis. Though rare, other variants within the genomic DNA regions of the Factor II gene covered by the primers or probes used in the cobas® Factor II and Factor V Test may result in failure to detect the presence of the Factor II c.*97G>A variant.
Specimen Type
Whole Blood
Container
Lavender/EDTA
Volume
4 mL
Minimum Volume
1 mL
Shipping and Handling Instructions
Transport specimen at room temperature.
Causes for Rejection
Blood sample frozen and thawed Specimen inadequately identified
Reference Range
No F2 c.*97G>A variant detected (previously known as G20210A)
Test Information
CPT Codes
81240
Synonyms
Factor II
F2
Performing Laboratory / Facility
UCLA Medical Center Clinical Laboratory (CHS)
Performing Section
Molecular Pathology
Availability
Monday through Friday, 0700-1700
Turnaround Time
14 days from receipt of specimen in performing lab
Methodology
The cobas® Factor II and Factor V Test uses real-time PCR analysis of genomic DNA samples isolated from K2EDTA whole blood to determine the genotype of the Factor II gene at position 20210 and/or the genotype of the factor V gene at position 1601. The test is performed on the cobas z 480 analyzer. A positive and negative control are included in each run to confirm the validity of the run.
Use
Thrombophilia is a condition with a predisposition to develop thrombosis (eg, blood clots) due to either an inherited or acquired defect in the coagulation system. Blood clots may form in either the venous or arterial vascular system and can lead to Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE). Collectively, DVT and PE are known as Venous Thromboembolism (VTE). VTE is the third most common cause of cardiovascular death after acute coronary syndrome and stroke. Inherited thrombophilia is most frequently caused by a Factor V or Factor II (Prothrombin) variant. Molecular genetic testing for the factor II (F2) c.*97G>A variant is recommended as this variant is present in 1% to 3% of the general population and its involvement in VTE is well established. Evaluation of a patient’s risk for hereditary thrombophilia through a Factor II genotyping test is critical for diagnosis and clinical management of patients with thrombophilia.
Limitations
There are many other causes of thrombotic disease, including heritable variants in the genes encoding proteins C, S, and antithrombin III. This test result does not exclude the possibility that this individual also carries some other variant or defect in the coagulation/anticoagulation system, in addition to the factor II variant. The presence of one or more of these other defects can have a synergistic interaction with the factor ®II variant to produce an even higher risk of thrombosis. Though rare, other variants within the genomic DNA regions of the Factor II gene covered by the primers or probes used in the cobas® Factor II and Factor V Test may result in failure to detect the presence of the Factor II c.*97G>A variant.
Specimen Collection and Handling
Specimen Type
Whole Blood
Container
Lavender/EDTA
Volume
4 mL
Minimum Volume
1 mL
Shipping and Handling Instructions
Transport specimen at room temperature.
Causes for Rejection
Blood sample frozen and thawed Specimen inadequately identified
Result Interpretation
Reference Range
No F2 c.*97G>A variant detected (previously known as G20210A)
