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Lab Dept:


Test Name:


General Information

Lab Order Codes:



Factor V Leiden (R506Q) Mutation Test, Blood; Factor 5 Mutation Test; Leiden Mutation Detection

CPT Codes:

81241 – Coagulation factor V gene analysis, Leiden variant

Test Includes:

Factor V mutation amplification; factor V mutation digestion; factor V mutation probes; factor V mutation analysis; factor V mutation separation


Test Indications:

Direct mutation analysis should be reserved for patients with clinically suspected thrombophilia and: APC-resistance proven or suspected by low APC-resistance ratio, Family history of the FV Leiden mutation.

Lab Testing Section:

Coagulation - Sendouts

Referred to:

Mayo Medical Laboratories (MML Test: 81419/F5DNA)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

3 - 5 days

Special Instructions:

Deliver immediately to the laboratory. Please note special tube requirement. See Container


Specimen Type:

Whole blood


Yellow top (ACD, Solution A) tube

Note: Special tube is available from the laboratory.

Draw Volume:

3 mL (Minimum: 1 mL) blood

Processed Volume:

Same as Draw Volume


A clean venipuncture is essential. Mix thoroughly by gentle inversion.

Special Processing:

Lab Staff: Do Not centrifuge. Specimen should remain in original collection container. Store blood at room temperature. Ship at ambient temperatures. Forward promptly.

Patient Preparation:


Sample Rejection:

Specimen more than 7 days old; mislabeled or unlabeled specimens


Reference Range:



This direct mutation analysis will not detect individuals with APC-resistance caused by mechanisms other than the Factor V Leiden.

While genetic disorders causing antithrombin , protein C, protein S deficiency, or hyperhomocysteinemia are independently associated with venous thromboembolism; interaction of these genetic disorders with the Factor V Leiden allele markedly compounds the risk for venous thromboembolism.

Environmental (clinical) risk factors also interact to produce venous thromboembolism.

Special coagulation clinic/laboratory and/or medical genetics consultations are available and may be especially helpful in complex cases or in situations where the diagnosis is atypical or uncertain.


Direct Mutation Analysis


Mayo Medical Laboratories July 2013


3/8/2004: Test moved from Fairview Diagnostic Laboratories to Mayo Medical Laboratories.
1/19/2006: CPT 2006 updates

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