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


Ordering Guidance


This assay will only detect the F5 c.1601G>A; p.Arg534Gln (rs6025) variant associated with factor V Leiden thrombophilia. To detect other pathogenic alterations in the F5 gene of a patient with a laboratory diagnosis of coagulation factor V deficiency, order F5NGS / F5 Gene Next Generation Sequencing, Varies.

 

This assay will not will not detect alterations in individuals with activated protein C (APC)-resistance caused by mechanisms other than the F5:c.1601G>A, p.Arg534Gln variant. Coagulation-based activated protein C (APC)-resistance ratio (mixing with factor V-deficient plasma) is recommended 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. For more information, see APCRV / Activated Protein C Resistance V (APCRV), Plasma or APCRR / Activated Protein C Resistance V (APCRV), with Reflex to Factor V Leiden, Blood and Plasma.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD solution B), light-blue top (sodium citrate)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.


Reporting Name

Factor V Leiden (R506Q) Mutation, B

Specimen Type

Whole blood

Specimen Stability Information

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

Report Available

3 to 5 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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 21668-9
21839 F5DNA Interpretation 69049-5
21841 F5DNA Reviewed By 18771-6

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Coagulation Patient Information (T675) in Special Instructions

Useful For

Patients with clinically suspected thrombophilia and:

1. Activated protein C (APC)-resistance either proven or suspected by a low or borderline APC-resistance ratio

or

2. A family history of factor V Leiden

Day(s) Performed

Weekly

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81241

 

Specimen Minimum Volume

1 mL

Reference Values

Negative

Method Name

Direct Variant Analysis