Factor V Leiden
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About the Disorder | Indications | Specimen l Testing Methodology l Sensitivity l Turnaround Time l CPT Codes l Cost l Shipping l Results
About the Disorder
Factor V Leiden (FVL) is the most common hereditary blood coagulation disorder in the United States. The Factor V Leiden (R506Q) mutation is associated with resistance to activated protein C (APC) which predisposes individuals with this mutation to venous thrombosis. Individuals who are heterozygotes for FVL have a 2-7 fold risk of developing venous thrombosis. Individuals who are homozygous for FVL have a 50-100 fold risk of developing venous thrombosis. The frequency of FVL in individuals of Caucasian descent is about 5%, and is about 1% in individuals of African-American descent.
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Indications
- First venous thromboembolism <50 years of age
- History of recurrent venous thromboembolism
- Venous thromboembolism at unusual sites (e.g. cerebral, mesenteric, portal and / or hepatic veins)
- Venous thromboembolic event during pregnancy
- Venous thromboembolism concurrent with use of oral contraceptives or hormone replacement therapy
- Women with recurrent fetal loss after 10 weeks gestation
- Family history of Factor V Leiden
- Consider in children with arterial thrombosis
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Specimen
At least 2ml of whole blood in purple top (EDTA) tube. Label tube with patient's name, birth date, and date of collection. Phlebotomist must initial tube to verify patient's identity.
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Testing Methodology
Allelic Discrimination TaqMan Assay (Applied Biosystems) is used to determine the genotype at the Factor V Leiden locus. End-products are analyzed using the ABI 7500 Real-Time PCR System for genotype detection.
*Analysis of Factor V Leiden mutation is also offered as part of our Thrombophilia Panel which includes MTHFR 677 C>T and 1298 A>C, PAI-1 4G/5G, as well as the Prothrombin 20210G>A mutation.
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Sensitivity
This test methodology detects >99% of instances of this mutation. Approximately 90-95% of APC-resistance is due to Factor V Leiden mutation.
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Turnaround Time
1 week
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CPT Codes
88390, 83894, 83898(x2), 83912
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Cost
Please call 1-866-450-4198 for current pricing.
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Shipping Instructions
Please enclose test requisition with sample. All information must be completed before sample can be processed. Place samples in Styrofoam mailer and ship at room temperature by overnight Federal Express to arrive Monday through Friday.
Ship to
Cytogenetics and Molecular Genetics Laboratories
3333 Burnet Avenue NRB 1042
Cincinnati, OH 45229
513-636-4474
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Results
Results will be reported to the referring physician, nurse, or genetic counselor as specified on the requisition form.
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