Mutation: NM_000130.4(F5):c.1601G>A (p.Arg534Gln), also known as R506Q
Incidence: Factor V Leiden is the most common form of inherited thrombophilia, accounting for 40-50% of cases. Heterozygosity for Factor V Leiden occurs in 3-8% of the US and European populations and is rare in Asian and African populations. Frequency of homozygosity for Factor V Leiden in white populations is approximately 1 in 5,000.
Pathogenicity: The Factor V Leiden mutation consists of a G to A nucleotide substitution that leads to the R506Q missense mutation and causes Factor Va to become less susceptible to cleavage by activated Protein C, resulting in increase thrombin generation and an elevated risk for venous thromboembolism (VTE). See Table below for relative risks of VTE.
If this mutation was detected, genetic counseling is recommended.
Thrombosis Risk (odds ratio)**:
Heterozygous
First VTE: 3 - 8
With heterozygosity for the F2 20210G>A mutation: 20
With hyperhomocysteinemia 22 with use of oral contraceptive pills: 30
With hormone replacement therapy (HRT): 7 - 16
Homozygous
First VTE: 10 - 80
With oral contraceptive use: 100
With surgery: 20
With pregnancy: 20- 40
Risk of pregnancy loss: 2 - 3
** Kujovich,Gen. Med. 13:1-16, 2011
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
Hypercoagulability
APC resistance
Activated protein C resistance
FV Q506
FVM
Factor V mutation
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
FVR
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: NM_000130.4(F5):c.1601G>A (p.Arg534Gln), also known as R506Q
Incidence: Factor V Leiden is the most common form of inherited thrombophilia, accounting for 40-50% of cases. Heterozygosity for Factor V Leiden occurs in 3-8% of the US and European populations and is rare in Asian and African populations. Frequency of homozygosity for Factor V Leiden in white populations is approximately 1 in 5,000.
Pathogenicity: The Factor V Leiden mutation consists of a G to A nucleotide substitution that leads to the R506Q missense mutation and causes Factor Va to become less susceptible to cleavage by activated Protein C, resulting in increase thrombin generation and an elevated risk for venous thromboembolism (VTE). See Table below for relative risks of VTE.
If this mutation was detected, genetic counseling is recommended.
Thrombosis Risk (odds ratio)**:
Heterozygous
First VTE: 3 - 8
With heterozygosity for the F2 20210G>A mutation: 20
With hyperhomocysteinemia 22 with use of oral contraceptive pills: 30
With hormone replacement therapy (HRT): 7 - 16
Homozygous
First VTE: 10 - 80
With oral contraceptive use: 100
With surgery: 20
With pregnancy: 20- 40
Risk of pregnancy loss: 2 - 3
** Kujovich,Gen. Med. 13:1-16, 2011
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
81241
LDT or Modified FDA
Yes
LOINC Codes
21667-1
Available Stat
No
Test Code
FVR
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
Hypercoagulability
APC resistance
Activated protein C resistance
FV Q506
FVM
Factor V mutation
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: NM_000130.4(F5):c.1601G>A (p.Arg534Gln), also known as R506Q
Incidence: Factor V Leiden is the most common form of inherited thrombophilia, accounting for 40-50% of cases. Heterozygosity for Factor V Leiden occurs in 3-8% of the US and European populations and is rare in Asian and African populations. Frequency of homozygosity for Factor V Leiden in white populations is approximately 1 in 5,000.
Pathogenicity: The Factor V Leiden mutation consists of a G to A nucleotide substitution that leads to the R506Q missense mutation and causes Factor Va to become less susceptible to cleavage by activated Protein C, resulting in increase thrombin generation and an elevated risk for venous thromboembolism (VTE). See Table below for relative risks of VTE.
If this mutation was detected, genetic counseling is recommended.
Thrombosis Risk (odds ratio)**:
Heterozygous
First VTE: 3 - 8
With heterozygosity for the F2 20210G>A mutation: 20
With hyperhomocysteinemia 22 with use of oral contraceptive pills: 30
With hormone replacement therapy (HRT): 7 - 16
Homozygous
First VTE: 10 - 80
With oral contraceptive use: 100
With surgery: 20
With pregnancy: 20- 40
Risk of pregnancy loss: 2 - 3
** Kujovich,Gen. Med. 13:1-16, 2011
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
81241
LDT or Modified FDA
Yes
LOINC Codes
21667-1
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: NM_000130.4(F5):c.1601G>A (p.Arg534Gln), also known as R506Q
Incidence: Factor V Leiden is the most common form of inherited thrombophilia, accounting for 40-50% of cases. Heterozygosity for Factor V Leiden occurs in 3-8% of the US and European populations and is rare in Asian and African populations. Frequency of homozygosity for Factor V Leiden in white populations is approximately 1 in 5,000.
Pathogenicity: The Factor V Leiden mutation consists of a G to A nucleotide substitution that leads to the R506Q missense mutation and causes Factor Va to become less susceptible to cleavage by activated Protein C, resulting in increase thrombin generation and an elevated risk for venous thromboembolism (VTE). See Table below for relative risks of VTE.
If this mutation was detected, genetic counseling is recommended.
Thrombosis Risk (odds ratio)**:
Heterozygous
First VTE: 3 - 8
With heterozygosity for the F2 20210G>A mutation: 20
With hyperhomocysteinemia 22 with use of oral contraceptive pills: 30
With hormone replacement therapy (HRT): 7 - 16
Homozygous
First VTE: 10 - 80
With oral contraceptive use: 100
With surgery: 20
With pregnancy: 20- 40
Risk of pregnancy loss: 2 - 3
** Kujovich,Gen. Med. 13:1-16, 2011
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
Hypercoagulability
APC resistance
Activated protein C resistance
FV Q506
FVM
Factor V mutation
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
FVR
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: NM_000130.4(F5):c.1601G>A (p.Arg534Gln), also known as R506Q
Incidence: Factor V Leiden is the most common form of inherited thrombophilia, accounting for 40-50% of cases. Heterozygosity for Factor V Leiden occurs in 3-8% of the US and European populations and is rare in Asian and African populations. Frequency of homozygosity for Factor V Leiden in white populations is approximately 1 in 5,000.
Pathogenicity: The Factor V Leiden mutation consists of a G to A nucleotide substitution that leads to the R506Q missense mutation and causes Factor Va to become less susceptible to cleavage by activated Protein C, resulting in increase thrombin generation and an elevated risk for venous thromboembolism (VTE). See Table below for relative risks of VTE.
If this mutation was detected, genetic counseling is recommended.
Thrombosis Risk (odds ratio)**:
Heterozygous
First VTE: 3 - 8
With heterozygosity for the F2 20210G>A mutation: 20
With hyperhomocysteinemia 22 with use of oral contraceptive pills: 30
With hormone replacement therapy (HRT): 7 - 16
Homozygous
First VTE: 10 - 80
With oral contraceptive use: 100
With surgery: 20
With pregnancy: 20- 40
Risk of pregnancy loss: 2 - 3
** Kujovich,Gen. Med. 13:1-16, 2011
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
81241
LDT or Modified FDA
Yes
LOINC Codes
21667-1
Complete View
Available Stat
No
Test Code
FVR
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
Hypercoagulability
APC resistance
Activated protein C resistance
FV Q506
FVM
Factor V mutation
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: NM_000130.4(F5):c.1601G>A (p.Arg534Gln), also known as R506Q
Incidence: Factor V Leiden is the most common form of inherited thrombophilia, accounting for 40-50% of cases. Heterozygosity for Factor V Leiden occurs in 3-8% of the US and European populations and is rare in Asian and African populations. Frequency of homozygosity for Factor V Leiden in white populations is approximately 1 in 5,000.
Pathogenicity: The Factor V Leiden mutation consists of a G to A nucleotide substitution that leads to the R506Q missense mutation and causes Factor Va to become less susceptible to cleavage by activated Protein C, resulting in increase thrombin generation and an elevated risk for venous thromboembolism (VTE). See Table below for relative risks of VTE.
If this mutation was detected, genetic counseling is recommended.
Thrombosis Risk (odds ratio)**:
Heterozygous
First VTE: 3 - 8
With heterozygosity for the F2 20210G>A mutation: 20
With hyperhomocysteinemia 22 with use of oral contraceptive pills: 30
With hormone replacement therapy (HRT): 7 - 16
Homozygous
First VTE: 10 - 80
With oral contraceptive use: 100
With surgery: 20
With pregnancy: 20- 40
Risk of pregnancy loss: 2 - 3
** Kujovich,Gen. Med. 13:1-16, 2011
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.
