FACTOR V LEIDEN MUTATION PCR

Code
900.1500
Name
FACTOR V LEIDEN MUTATION PCR
Category
None
Department
Send-Out
Start Date
Expiration Date
Synonyms
CPT Codes
83890, 83896x2, 83898, 83912
Site
SBMF
Reference Test
36001
ATLAS Test Code

Specimen Information

Type

Lavender, EDTA Whole Blood

Volume

7.0 ml

Transport Info

Refrigerated

Fasting Required?
False
Patient Instructions

Reference Range

Negative (no mutation is present)

Methodology

Polymerase Chain Reaction (PCR)

Clinical Significance

Factor V Leiden is more resistant to proteolytic degradation by Activated Protein C (APC) and is the most common cause of inherited venous thrombosis in the Caucasian population. The mode of inheritance is autosomal dominance. The mutation has been found in northern and southern Europe with a three to five percent prevalence rate. It has also been found in Arab populations. This mutation is apparently absent in African, Asian, and Australian aboriginal populations. Persons who are heterozygous for Factor V Leiden have a relative risk of venous thrombosis that is five- to ten-fold higher than the general population. Those who are homozygous have an estimated 80-fold increased risk of venous thrombosis. Risk of thrombosis is high in certain conditions such as pregnancy, immobilization, surgery, and use of oral contraceptives. The advantage of genetic analysis for this mutation over plasma screening is that the results of genetic analysis can indicate presence of APC resistance in patients receiving anticoagulants or patients who have inhibitors for the activated partial thromboplastin time (APTT) test.

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