Reference Interval:
Negative: This sample is negative for factor V Leiden, R506Q mutation.
|
| Interpretive Data: |
Background Information for Factor V Leiden (F5) R506Q Mutation
Characteristics: Factor V Leiden mutation is the most common cause of inherited thrombophilia and accounts for over 90 percent of activated protein C resistance. The expression of Factor V Leiden thrombophilia is impacted by coexisting genetic thrombophilic disorders, acquired thrombophilic disorders (malignancy, hyperhomocysteinemia, high factor VIII levels), and circumstances including: pregnancy, oral contraceptive use, hormone replacement therapy, selective estrogen receptor modulators, travel, central venous catheters, surgery, transplantation and advanced age.
Incidence: Approximately 5 percent of Caucasians, 2 percent of Hispanics, 1 percent of African Americans and Native Americans and 0.5 percent of Asians are heterozygous; homozygosity occurs in 1 in 5000 individuals.
Inheritance: Incomplete autosomal dominant.
Penetrance: Lifetime risk of thrombosis is 10 percent for heterozygotes and 80 percent for homozygotes.
Cause: A deleterious F5 gene mutation R506Q (1691G>A). Note: Standardized nomenclature for the Factor V Leiden mutation is c.1601G>A (p.Arg534Gln).
Clinical Sensitivity and Specificity: 99 percent.
Methodology: Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. F5 gene mutations, other than R506Q, will not be detected.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
|
| Note: |
This test is not recommended for nonsymptomatic patients under 18 years of age.
|
| CPT Code(s): |
83891 Isolation; 83898 Amplification; 83896 Nucleic acid probes; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
|
|
![[ image for: Patient History For Molecular Genetics]](icon_21.jpg){kind=icon}