Reference Interval:
Negative: This sample is negative for factor V Leiden, R506Q mutation.
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| 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| Note: |
This test is not recommended for nonsymptomatic patients under 18 years of age.
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| 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.
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Cross References: |
APC Resistance Mutation Detection (Factor V Leiden (F5) R506Q Mutation)
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