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HelpTest Code Billings Clinic: 9068 Mayo: PTNT Prothrombin G20210A Mutation, Blood
Reporting Name
Prothrombin G20210A Mutation, BPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Patients with clinically suspected thrombophilia
Determination of the duration of anticoagulation therapy of venous thromboembolism patients
Screening for women contemplating hormone therapy
Method Name
Direct Variant Analysis
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.
Specimen 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
Interpretation
The results will be reported as:
-Negative for the c.*97G>A variant
-Heterozygous for the c.*97G>A variant
-Homozygous for the c.*97G>A variant
Day(s) Performed
Weekly
Report Available
3 to 5 daysTest 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
81240-F2 (prothrombin, coagulation factor II) (eg, hereditary hypercoagulability) gene analysis, 20210G>A variant
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PTNT | Prothrombin G20210A Mutation, B | 24475-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 21803 | Prothrombin G20210A Mutation, B | 24475-6 |
| 21804 | PTNT Interpretation | 69049-5 |
| 21806 | PTNT 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:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Coagulation Patient Information (T675)