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Test Code F5DNA Factor V Leiden (R506Q) Mutation, Blood

Reporting Name

Factor V Leiden (R506Q) Mutation, B

Useful For

Factor V Leiden mutation testing should be reserved for patients with clinically suspected thrombophilia and: 1) APC-resistance proven or suspected by a low or borderline APC-resistance ratio, or 2) a family history of factor V Leiden.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole blood


Specimen Required


Container/Tube: 

Preferred: Yellow top (ACD)

Acceptable: EDTA or sodium citrate

Specimen Volume: Full tube

Collection Instructions: 

1. Invert several times to mix blood.

2. Send specimen in original tube.

Additional Information: Can be combined with other molecular coagulation tests;

-MTHAC 5,10-Methylenetetrahydrofolate Reductase A1298C, Mutation, Blood

-PTNT Prothrombin G20210A Mutation, Blood

-MTHFR 5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Blood

-MTHP 5,10-Methylenetetrahydrofolate Reductase C677T and A1298C Mutations, Blood


Specimen Minimum Volume

1 mL blood in a 3-mL ACD tube

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Ambient (preferred) 7 days
  Frozen  14 days
  Refrigerated  14 days

Reference Values

Negative

Day(s) and Time(s) Performed

Monday through Friday; 12 p.m.

Test Classification

This test has been modified from the manufacturer's instructions. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81241-F5 (coagulation factor V) (eg, hereditary hypercoagulability) gene analysis, Leiden variant

 

LOINC Code Information

Test ID Test Order Name Order LOINC Value
F5DNA Factor V Leiden (R506Q) Mutation, B 21668-9

 

Result ID Test Result Name Result LOINC Value
21838 Factor V Leiden (R506Q) Mutation, B 21667-1
21839 F5DNA Interpretation 69049-5
21841 F5DNA Reviewed By 69047-9

Disease States

  • Factor V Leiden

Clinical Information

Venous thromboembolism includes deep vein thrombosis and its complication, pulmonary embolism. Plasma from 12% to 20% of venous thromboembolism patients is resistant to the anticoagulant effect of activated protein C (APC resistance). Essentially all patients with hereditary APC resistance have a single nucleotide mutation of the coagulation factor V gene (F5 rs6025), which encodes for an arginine (R) to glutamine (Q) substitution at position 506 of the factor V protein (FV R506Q). The factor V Leiden (R506Q) gene mutation test is a direct mutation analysis of patient blood leukocyte genomic DNA.

 

We recommend the coagulation-based activated protein C (APC)-resistance ratio (mixing with factor V-deficient plasma) as the initial screening assay for APC-resistance. Depending on the assay system, the APC-resistance ratio may be indeterminate for patients with a lupus anticoagulant or extremely high heparin levels.

Interpretation

The interpretive report will include specimen information, assay information, background information, and conclusions based on the test results (normal, heterozygous FV R506Q, homozygous FV R506Q).

Clinical Reference

1. Dahlback B, Carlsson M, Svensson PR: Familial Thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acac Sci USA 1993;90:1004-1008

2. Bertina RM, Koeleman BP, Koster T, et al: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-67

3. Zoller B, Svensson PJ, He X, Dahlback B: Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest 1994;94:2521-2524

4. Hall JG, Eis PS, Law SM, et al: Sensitive detection of DNA polymorphisms by the serial invasive signal amplification reaction. Proc Natl Acad Sci USA 2000;97:8272-8277

5. Heit JA: Thrombophilia: clinical and laboratory assessment and management. In Consultative Hemostasis and Thrombosis. Fourth edition. Edited by CS Kitchens, BM Alving, CM Kessler. Saunders 2012

Analytic Time

3 days

Reject Due To

Hemolysis

Mild OK; Gross OK

Lipemia

Mild OK; Gross OK

Icterus

NA

Other

Green top (heparin) tube or Extracted DNA

Method Name

Direct Mutation Analysis

Forms

1. Coagulation Patient Information (T675) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing form (T576) is available in Special Instructions.

3. If not ordering electronically, complete, print, and send a Coagulation Test Request Form (T753) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/coagulation-test-request-form.pdf)