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HelpTest Code FVLPTG Genetic Thrombophilia Mutation
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.
Synonyms/Keywords
Factor V Leiden Mutation Test, FV R506Q, Factor II Mutation, PTG 20210, Prothrombin Gene Mutation (PTG), Hypercoagulability, Thrombophilia
Specimen Requirements
| Fasting Required | Specimen Type | Preferred Container/Tube | Acceptable Container/Tube | Specimen Volume | Specimen 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 Type | Temperature | Time |
|---|---|---|
| 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 |
Test Components
Prothrombin Gene Mutation (PTG), Factor V Leiden(FVL)
Interpretations
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.
Reference Range Information
| Performing Location | Reference Range |
|---|---|
| Marshfield | Heterozygous, Homozygous, or Normal (No evidence of FVL or PTG mutation) |
Marshfield Labs Performing Department
Marshfield Labs Molecular Pathology
Performing Information
| Performing Location | Day(s) Test Performed | Analytical Time | Methodology/Instrumentation |
|---|---|---|---|
| Marshfield | Monday through Friday | 6-8 hours | PCR/Genetic mutation |
CPT Codes
| CPT | Modifier (if needed) |
Quantity | Description | Comments |
|---|---|---|---|---|
| 81241 | Factor V Leiden | |||
| 81240 | Prothrombin Gene Mutation |
|
||
| DEX Z-Code | ZB774 |
|||
Outreach CPT Codes
| CPT | Modifier (if needed) |
Quantity | Description | Comments |
|---|---|---|---|---|
| 81241 | Factor V Leiden | |||
| 81240 | Prothrombin Gene Mutation |
|
||
| DEX Z-Code |
ZB774 |
|||
Ordering Applications
| Ordering Application | Description |
|---|---|
| COM | Genetic Thrombophilia Mutation |