Test Code 62871959 Factor 5 (V) Leiden Mutation
Performing Laboratory
Torrance Memorial Laboratories
Specimen Requirements
Submit the following specimen:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or blue top (sodium citrate)
Specimen Volume: Full Tube
Collection Instructions:
1. Tube must be filled to the fill line.
2. Invert several times to mix blood.
3. Send specimen in original tube.
4. Do not centrifuge or concentrate the blood sample by plasma removal.
Specimen Transport Temperature
Ambient
Storage Temp Stability:
Ambient: 24 hours
Refrigerated: 15 days
Methodology
RT-PCR
Reference Range
NORMAL: Normal Factor V function. Although the
Factor V Leiden mutation is absent, the individual may have other
genetic and environmental risk factors for thrombosis. If
clinically indicated, further investigation may be necessary.
HETEROZYGOUS: This individual does have the factor V
Leiden mutation on one allele.
Heterozygous genotype for Factor V Leiden causes a resistance to
activated protein C. These individuals have a 5 – 10
fold increased risk of venous thrombosis. If Prothrombin Gene
Mutation (Factor II) is also present, then the risk of venous
thrombosis is even higher.
FEMALES ONLY: Women who are pregnant and heterozygous for
Factor V Leiden have a 5 – 10 fold increase in venous
thromboembolism.
HOMOZYGOUS: This individual does have the Factor V
Leiden mutation on two alleles.
Homozygous genotype for Factor V Leiden causes great resistance to
activated protein C. These individuals have a 50 – 100
fold increased risk for venous thrombosis. If Prothrombin
Gene Mutation (Factor II) is also present, the risk of thrombosis
is even greater.
FEMALES ONLY: Women with homozygous Factor V Leiden mutation
have a substantially increased risk of clotting in pregnancy (and
on estrogen-containing birth control pills or hormone replacement)
in the form of deep vein thrombosis and pulmonary embolism.
They also may have an increased risk for preeclampsia, may have a
small increased risk of low birth weight babies, may have a small
increased risk of miscarriage and still birth due to either
clotting in the placenta, umbilical cord, or the fetus.
Day(s) Test Set up/TAT
Performed:
Monday through Sunday (6AM to 2:30PM)
TAT: 1 day
Not available STAT
CPT Code
81241