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26188 Genetic Thrombophilia Mutation

Genetic Thrombophilia Mutation
Test Code: FVLPTG
Synonyms/Keywords

​Factor V Leiden Mutation Test, FV R506Q, Factor II Mutation, PTG 20210, Prothrombin Gene Mutation (PTG), Hypercoagulability, Thrombophilia

Test Components

​Prothrombin Gene Mutation (PTG), Factor V Leiden (FVL)

Useful For

​People with Factor V Leiden (G1691A) or prothrombin G20210A mutations have a higher than average risk of developing a type of blood clot called a deep venous thrombosis (DVT).  Factor V Leiden mutation and Prothrombin G20210A tests are ordered when it is suspected that a person has an inherited risk factor for thrombosis, for example, in someone who has a first DVT or venous thromboembolism (VTE) before age 50 or in an unusual part of the body.

Specimen Requirements
Fasting RequiredSpecimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)		Pediatric Minimum Volume
(no repeat)
​No​Whole blood​EDTA Lavender Top Tube (LTT)​Citrated Blue Top Tube (BTT)​3.0 mL​1.0 mL​
Collection Processing Instructions

​Tube must be drawn at least 90% full. Invert tube completely three or four times to mix. Do not shake. Do not open tube. Note: The blood specimen tube must not be opened prior to analysis.

Specimen Stability Information
Specimen TypeTemperatureTime
​Whole blood ​ ​Room Temperature​< 24 hrs
​Refrigerate​<= 15 days
​Frozen​<= 3 months
Rejection Criteria
Clotted
​Tubes that have been opened or previously processed
​Unacceptable temperature storage
​Heparinized blood
Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation
​Marshfield​Monday through Friday​6-8 hours​PCR/Genetic mutation
Reference Range Information
Performing LocationReference Range
​Marshfield​Heterozygous, Homozygous, or Normal (No evidence of FVL or PTG mutation)
Interpretation

​Heterozygous for Factor V Leiden: the relative risk of venous thrombosis is about 4 to 5-fold that of the general population. Other conditions, either acquired or inherited, may act synergistically to increase an individual's thrombotic risk.

Homozygous for Factor V Leiden: the relative risk of venous thrombosis is between 10 to 70-fold that of the general population. Other conditions, either acquired or inherited, may act synergistically to increase an individual's thrombotic risk.

Heterozygous for Prothrombin G20210A: the relative risk of venous thrombosis is about 3 to 4-fold that of the general population. Other conditions, either acquired or inherited, may act synergistically to increase an individual's thrombotic risk.

Homozygous for Prothrombin G20210A:  This is a rare finding occurring roughly 1 in 10,000 people of European descent.  It probably confers some degrees of hypercoagulability, but there are too few cases to date to calculate risk.  The magnitude of the risk associated with homozygosity for this mutation has not been fully established but is likely to be greater than the 3 to 4-fold increased risk attributed to heterozygosity.

Outreach CPTs
CPTModifier
(if needed)		QuantityDescriptionComments
81241​​​​Factor V Leiden​
​81240​​​Prothrombin Gene Mutation​
Synonyms/Keywords

​Factor V Leiden Mutation Test, FV R506Q, Factor II Mutation, PTG 20210, Prothrombin Gene Mutation (PTG), Hypercoagulability, Thrombophilia

Test Components

​Prothrombin Gene Mutation (PTG), Factor V Leiden (FVL)

Ordering Applications
Ordering ApplicationDescription
​COM​Genetic Thrombophilia Mutation
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting RequiredSpecimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)		Pediatric Minimum Volume
(no repeat)
​No​Whole blood​EDTA Lavender Top Tube (LTT)​Citrated Blue Top Tube (BTT)​3.0 mL​1.0 mL​
Collection Processing

​Tube must be drawn at least 90% full. Invert tube completely three or four times to mix. Do not shake. Do not open tube. Note: The blood specimen tube must not be opened prior to analysis.

Specimen Stability Information
Specimen TypeTemperatureTime
​Whole blood ​ ​Room Temperature​< 24 hrs
​Refrigerate​<= 15 days
​Frozen​<= 3 months
Rejection Criteria
Clotted
​Tubes that have been opened or previously processed
​Unacceptable temperature storage
​Heparinized blood
Useful For

​People with Factor V Leiden (G1691A) or prothrombin G20210A mutations have a higher than average risk of developing a type of blood clot called a deep venous thrombosis (DVT).  Factor V Leiden mutation and Prothrombin G20210A tests are ordered when it is suspected that a person has an inherited risk factor for thrombosis, for example, in someone who has a first DVT or venous thromboembolism (VTE) before age 50 or in an unusual part of the body.

Test Components

​Prothrombin Gene Mutation (PTG), Factor V Leiden (FVL)

Reference Range Information
Performing LocationReference Range
​Marshfield​Heterozygous, Homozygous, or Normal (No evidence of FVL or PTG mutation)
Interpretation

​Heterozygous for Factor V Leiden: the relative risk of venous thrombosis is about 4 to 5-fold that of the general population. Other conditions, either acquired or inherited, may act synergistically to increase an individual's thrombotic risk.

Homozygous for Factor V Leiden: the relative risk of venous thrombosis is between 10 to 70-fold that of the general population. Other conditions, either acquired or inherited, may act synergistically to increase an individual's thrombotic risk.

Heterozygous for Prothrombin G20210A: the relative risk of venous thrombosis is about 3 to 4-fold that of the general population. Other conditions, either acquired or inherited, may act synergistically to increase an individual's thrombotic risk.

Homozygous for Prothrombin G20210A:  This is a rare finding occurring roughly 1 in 10,000 people of European descent.  It probably confers some degrees of hypercoagulability, but there are too few cases to date to calculate risk.  The magnitude of the risk associated with homozygosity for this mutation has not been fully established but is likely to be greater than the 3 to 4-fold increased risk attributed to heterozygosity.

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation
​Marshfield​Monday through Friday​6-8 hours​PCR/Genetic mutation
For billing questions, see Contacts
Outreach CPTs
CPTModifier
(if needed)		QuantityDescriptionComments
81241​​​​Factor V Leiden​
​81240​​​Prothrombin Gene Mutation​
For most current information refer to the Marshfield Laboratory online reference manual.