Mutation and Incidence The Prothrombin 20210G>A mutation (NM_000506.4(F2):c.*97G>A) is located in the 3' untranslated region of this gene. It has an estimated prevalence of 2% in Caucasians and is rare among Asians or Africans.
Pathogenicity The Prothrombin 20210G>A mutation results in increased levels of plasma prothrombin and a concurrent increased risk of thrombosis. The mutation alters the polyadenylation site of the gene and results in increased mRNA synthesis and a subsequent increase in protein expression.
Thrombosis Risk Heterozygosity for the Prothrombin 20210G>A carries a 3-4 fold increased risk of venous thromboembolism (VTE). Women heterozygous for this mutation and taking oral contraceptive pills have an approximately 16-fold increased risk of VTE.
Homozygosity for F2 20210G>A is expected to significantly elevate the risk of thrombosis, however, its precise risk has not been determined.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
Thrombosis risk mutations
Prothrombin 20210A
Hypercoagulability
Sample Type
Whole blood
Collect
Lavender top preferred, Blue top and Yellow (ACD) tops acceptable
Amount to Collect
3 mL blood (Note this volume is sufficient to perform all thrombosis risk factor mutations)
Preferred Volume
3 mL blood (Note this volume is sufficient to perform all thrombosis risk factor mutations)
Minimum Volume
1.5 mL blood
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Test Code
PTTR
Test Group
Thrombosis risk
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Preferred Volume
3 mL blood (Note this volume is sufficient to perform all thrombosis risk factor mutations)
Minimum Volume
1.5 mL blood
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Reference Interval
Negative
Additional Information
Mutation and Incidence The Prothrombin 20210G>A mutation (NM_000506.4(F2):c.*97G>A) is located in the 3' untranslated region of this gene. It has an estimated prevalence of 2% in Caucasians and is rare among Asians or Africans.
Pathogenicity The Prothrombin 20210G>A mutation results in increased levels of plasma prothrombin and a concurrent increased risk of thrombosis. The mutation alters the polyadenylation site of the gene and results in increased mRNA synthesis and a subsequent increase in protein expression.
Thrombosis Risk Heterozygosity for the Prothrombin 20210G>A carries a 3-4 fold increased risk of venous thromboembolism (VTE). Women heterozygous for this mutation and taking oral contraceptive pills have an approximately 16-fold increased risk of VTE.
Homozygosity for F2 20210G>A is expected to significantly elevate the risk of thrombosis, however, its precise risk has not been determined.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Codes
81240
LDT or Modified FDA
Yes
LOINC Codes
24477-2
Available Stat
No
Test Code
PTTR
Test Group
Thrombosis risk
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run once per week, or as needed, day shift only
Methodology
PCR and allele-specific probes
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top preferred, Blue top and Yellow (ACD) tops acceptable
Amount to Collect
3 mL blood (Note this volume is sufficient to perform all thrombosis risk factor mutations)
Sample Type
Whole blood
Preferred Volume
3 mL blood (Note this volume is sufficient to perform all thrombosis risk factor mutations)
Minimum Volume
1.5 mL blood
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Reference Interval
Negative
Synonyms
Thrombosis risk mutations
Prothrombin 20210A
Hypercoagulability
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
Mutation and Incidence The Prothrombin 20210G>A mutation (NM_000506.4(F2):c.*97G>A) is located in the 3' untranslated region of this gene. It has an estimated prevalence of 2% in Caucasians and is rare among Asians or Africans.
Pathogenicity The Prothrombin 20210G>A mutation results in increased levels of plasma prothrombin and a concurrent increased risk of thrombosis. The mutation alters the polyadenylation site of the gene and results in increased mRNA synthesis and a subsequent increase in protein expression.
Thrombosis Risk Heterozygosity for the Prothrombin 20210G>A carries a 3-4 fold increased risk of venous thromboembolism (VTE). Women heterozygous for this mutation and taking oral contraceptive pills have an approximately 16-fold increased risk of VTE.
Homozygosity for F2 20210G>A is expected to significantly elevate the risk of thrombosis, however, its precise risk has not been determined.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Codes
81240
LDT or Modified FDA
Yes
LOINC Codes
24477-2
Ordering
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run once per week, or as needed, day shift only
Methodology
PCR and allele-specific probes
Reported
7-10 days
Additional Information
Mutation and Incidence The Prothrombin 20210G>A mutation (NM_000506.4(F2):c.*97G>A) is located in the 3' untranslated region of this gene. It has an estimated prevalence of 2% in Caucasians and is rare among Asians or Africans.
Pathogenicity The Prothrombin 20210G>A mutation results in increased levels of plasma prothrombin and a concurrent increased risk of thrombosis. The mutation alters the polyadenylation site of the gene and results in increased mRNA synthesis and a subsequent increase in protein expression.
Thrombosis Risk Heterozygosity for the Prothrombin 20210G>A carries a 3-4 fold increased risk of venous thromboembolism (VTE). Women heterozygous for this mutation and taking oral contraceptive pills have an approximately 16-fold increased risk of VTE.
Homozygosity for F2 20210G>A is expected to significantly elevate the risk of thrombosis, however, its precise risk has not been determined.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
Thrombosis risk mutations
Prothrombin 20210A
Hypercoagulability
Collection
Sample Type
Whole blood
Collect
Lavender top preferred, Blue top and Yellow (ACD) tops acceptable
Amount to Collect
3 mL blood (Note this volume is sufficient to perform all thrombosis risk factor mutations)
Preferred Volume
3 mL blood (Note this volume is sufficient to perform all thrombosis risk factor mutations)
Minimum Volume
1.5 mL blood
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Processing
Test Code
PTTR
Test Group
Thrombosis risk
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Preferred Volume
3 mL blood (Note this volume is sufficient to perform all thrombosis risk factor mutations)
Minimum Volume
1.5 mL blood
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Result Interpretation
Reference Interval
Negative
Additional Information
Mutation and Incidence The Prothrombin 20210G>A mutation (NM_000506.4(F2):c.*97G>A) is located in the 3' untranslated region of this gene. It has an estimated prevalence of 2% in Caucasians and is rare among Asians or Africans.
Pathogenicity The Prothrombin 20210G>A mutation results in increased levels of plasma prothrombin and a concurrent increased risk of thrombosis. The mutation alters the polyadenylation site of the gene and results in increased mRNA synthesis and a subsequent increase in protein expression.
Thrombosis Risk Heterozygosity for the Prothrombin 20210G>A carries a 3-4 fold increased risk of venous thromboembolism (VTE). Women heterozygous for this mutation and taking oral contraceptive pills have an approximately 16-fold increased risk of VTE.
Homozygosity for F2 20210G>A is expected to significantly elevate the risk of thrombosis, however, its precise risk has not been determined.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
Administrative
CPT Codes
81240
LDT or Modified FDA
Yes
LOINC Codes
24477-2
Complete View
Available Stat
No
Test Code
PTTR
Test Group
Thrombosis risk
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run once per week, or as needed, day shift only
Methodology
PCR and allele-specific probes
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top preferred, Blue top and Yellow (ACD) tops acceptable
Amount to Collect
3 mL blood (Note this volume is sufficient to perform all thrombosis risk factor mutations)
Sample Type
Whole blood
Preferred Volume
3 mL blood (Note this volume is sufficient to perform all thrombosis risk factor mutations)
Minimum Volume
1.5 mL blood
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Reference Interval
Negative
Synonyms
Thrombosis risk mutations
Prothrombin 20210A
Hypercoagulability
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
Mutation and Incidence The Prothrombin 20210G>A mutation (NM_000506.4(F2):c.*97G>A) is located in the 3' untranslated region of this gene. It has an estimated prevalence of 2% in Caucasians and is rare among Asians or Africans.
Pathogenicity The Prothrombin 20210G>A mutation results in increased levels of plasma prothrombin and a concurrent increased risk of thrombosis. The mutation alters the polyadenylation site of the gene and results in increased mRNA synthesis and a subsequent increase in protein expression.
Thrombosis Risk Heterozygosity for the Prothrombin 20210G>A carries a 3-4 fold increased risk of venous thromboembolism (VTE). Women heterozygous for this mutation and taking oral contraceptive pills have an approximately 16-fold increased risk of VTE.
Homozygosity for F2 20210G>A is expected to significantly elevate the risk of thrombosis, however, its precise risk has not been determined.
If a mutation is detected it is recommended that the patient seek genetic counseling.
This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
