Order Code LAB4770 Prothrombin G20210A Mutation, Blood
Additional Codes
Mayo Test Code: PTNT
Ordering Guidance
This assay will only detect the F2 c.*97G>A (rs1799963) variant associated with thrombophilia. To detect other pathogenic alterations in the F2 gene of a patient with a laboratory diagnosis of thrombophilia, order F2NGS / F2 Gene Next Generation Sequencing, Varies.
This assay will not detect alterations in individuals with thrombophilia caused by mechanisms other than the F2 c.*97G>A variant. For those situations consider ordering AATHR / Thrombophilia Profile, Plasma and Whole Blood.
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.
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:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Coagulation Patient Information (T675)
Useful For
Patients with clinically suspected thrombophilia
Determination of the duration of anticoagulation therapy of venous thromboembolism patients
Screening for women contemplating hormone therapy
(Factor II Gene Mutation)
Genetics Test Information
This test detects the F2 c.*97G>A variant (legacy G20210A).
Special Instructions
Method Name
Direct Variant Analysis
Reporting Name
Prothrombin G20210A Mutation, BSpecimen Type
Whole bloodSpecimen Minimum Volume
1 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole blood | Ambient (preferred) | 14 days | |
Frozen | 14 days | ||
Refrigerated | 14 days |
Reject Due To
Gross hemolysis | OK |
Gross lipemia | OK |
Extracted DNA | Reject |
Reference Values
Negative
Method Description
An allelic discrimination assay is set up using TaqMan chemistry. End-products are analyzed using a real-time polymerase chain reaction instrument for genotype detection.(Package insert: TaqMan SNP Genotyping Assays. Applied Biosystems; 2014)
Day(s) Performed
Weekly
Performing Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
81240-F2 (prothrombin, coagulation factor II) (eg, hereditary hypercoagulability) gene analysis, 20210G>A variant