| Factor 5 Leiden (8000101241) | |
|---|---|
| Test Mnemonic: | Factor5 |
| Specimen Requirements: | Whole Blood |
| Test Included: | Factor V (F5) Leiden |
| Container: | lavender (EDTA), pink (K2EDTA), blue (Na Citrate) or yellow (Acid Citrate Dextrose) tube |
| Minimum Volume: | 1 ml |
| Storage/Transport: | Ambient |
| Stability: | 5 days |
| Causes for Rejection: | Incorrect Tube, inadequate volume |
| Reference Range: | Negative |
| Turnaround Time: | 1-7 days |
| Methodology: | GenMark eSensor |
| Performed: | Molecular Diagnostics Laboratory |
| Synonyms: | Thrombophilia risk, Leiden mutation, R506Q (1691G>A) Mutation F5, coagulation factor V, F5 R506Q mutation, factor V Leiden, FVL activated protein C resistance mutation, APC resistance mutation |
| CPT 4 Code: | 81241 |
| Note: |
Phenotype Characteristics: Thrombophilia due to mutation of coagulation factor 5 (F5) leading to activated protein C resistance.
Incidence: Between 3 and 8 percent of people with European ancestry are heterozygous and about 1 in 5000 individuals are homozygous with two copies of the mutation. The mutation is less common in other population. Penetrance: Lifetime risk of thrombosis is 10 percent for heterozygotes and 80 percent for homozygotes. Mutation Tested: Missense F5 gene mutation R506Q (1691G>A). Note: Standardized nomenclature for the Factor 5 Leiden mutation is c.1601G>A (p.Arg534Gln). Clinical Sensitivity and Specificity: 99 percent. Methodology: Mutation is detected using genomic DNA, multiplex polymerase chain reaction, and eSensor XT-8 System. Assay uses U.S. Food and Drug Administration (FDA) approved kit (GenMark Diagnostics). Analytic Sensitivity and Specificity: 99 percent. Limitations: Rare diagnostic errors can occur due to primer site mutations. F5 gene mutations, other than R506Q (1691G>A) will not be detected. Counseling and informed consent are recommended for genetic testing. References: OMIM: 612309 https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia |
| When ordering tests for which Medicare or Medicaid reimbursement will be sought, physicians should only order tests that are medically necessary for the diagnosis or treatment of the patient. Components of the organ or disease panels may be ordered individually. The diagnostic information must substantiate all tests ordered and must be in the form of an ICD-10 code or its verbal equivalent. | |