Factor V Leiden (R506Q) Mutation, Blood

Casandra

Casandra Test Code MC67964Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID F5DNACPT Code 81241

Factor V Leiden (R506Q) Mutation, Blood

Clinical Use

Use

This test is useful for identifying patients with clinically suspected thrombophilia, particularly those with activated protein C (APC) resistance, which may be proven or suspected by a low or borderline APC-resistance ratio, or a family history of factor V Leiden. It detects the F5 c.1601G>A; p.Arg534Gln variant, associated with APC resistance, which is prevalent in 12% to 20% of patients with venous thromboembolism.

Special Instructions

A previous bone marrow transplant from an allogenic donor may interfere with the testing. For testing such patients, it is advised to call the provided helpline for instructions. Informed consent is required for New York clients, and it must be documented that a copy is on file. The test is available for order in New York state.

Limitations

This assay will detect the genetic basis for APC resistance due to the F5 c.1601G>A, p.Arg534Gln variant, but not due to other genetic variants or acquired causes. Rare SNPs under the primers can result in preferential amplification causing inaccurate results. Discrepancies may occur between the DNA-based test and APC resistance assay in patients who have undergone allogenic transplants. Genetic counseling is advised before testing asymptomatic family members.

Test Details

New York Approved