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Test Code 62871959 Factor 5 (V) Leiden Mutation

Important Note

Please note change in Performing Lab effective 11/22/16 and change in container requirements.  ACD tube is no longer acceptable

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