Home Test Search Results Factor V (5) Leiden Gene Mutation
Factor V (5) Leiden Gene Mutation

Justification

The Factor V Leiden mutation causes resistance to activated protein C and is the most common inherited predisposition to venous thrombosis in Caucasian populations (40 to 50 percent of cases). Heterozygosity for the Factor V Leiden mutation confers an approximately sevenfold increased risk of thrombosis, while homozygosity for the mutation increases thrombosis risk 80-fold. It is present in 60% of thrombotic patients with normal levels of protein S, protein C, antithrombin, and antiphospholipid antibodies. The Factor V Leiden mutation has also been associated with spontaneous abortion and may be linked to recurrent pregnancy loss.

STAT: < 48 hours (M-F)

RT-PCR

Draw Tube: Purple Top

Sample Type: EDTA Whole Blood

DRAW KITS AVAILABLE

Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
ALTERNATIVE Cheek swab 2 swab - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised
SPECIAL INSTRUCTIONS -

General Information

METHODOLOGY RT-PCR
STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 3 days (M-F)
ALTERNATIVE NAMES R506Q, G1691A, c.1601G>A, p.Arg534Gln, FVL
DESCRIPTION This test detects the factor V Leiden variant (c.1601G>A, p.Arg534Gln) using real-time PCR. This test can detect whether a patient is normal or has one factor V Leiden allele (i.e., heterozygous) or two alleles (i.e., homozygous).
LIMITATIONS Rare variants within the primer binding sites could lead to allele drop-out and a potential false negative result.
NORMAL RANGE No mutation found
ASSOCIATED TESTING -
REFERENCES

1. Van Cott EM, Khor B, Zehnder JL. Factor V Leiden. Am J Hematol. 2016 Jan;91(1):46-9.
2. Pritchard AM, Hendrix PW, Paidas MJ. Hereditary Thrombophilia and Recurrent Pregnancy Loss. Clin Obstet Gynecol. 2016 Sep;59(3):487-97.

SAMPLE REPORT Upon request
NEW YORK STATE APPROVED No

Test Codes

ORDER CODE P3050
CPT CODE 81241
LOINC CODE 21667-1