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

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.

Method Name

Direct Mutation Analysis

Reporting Name

Factor V Leiden (R506Q) Mutation, B

Specimen Type

Whole blood

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

Forms:

1. Coagulation Patient Information Sheet (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 (Supply T576) is available in Special Instructions.

3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

General Test Request Form (T239) (http://www.mayomedicallaboratories.com/it-mmfiles/general-request-form.pdf)

Coagulation Test Request Form (T753) (http://www.mayomedicallaboratories.com/it-mmfiles/coagulation-test-request-form.pdf)

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  7 days
  Refrigerated  7 days

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 (fV) 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.

Reference Values

Negative

Cautions

This direct mutation analysis will not detect individuals with activated protein c (APC)-resistance caused by mechanisms other than the fV R506Q.

 

Special Coagulation Clinic and/or Medical Genetics consultations are available for DNA diagnosis cases, and may be especially helpful in complex cases or in situations where the diagnosis is atypical or uncertain.

Day(s) Performed

Monday through Friday; 12 p.m.

Report Available

3 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

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.

CPT Code Information

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

 

NY State Approved

Yes