Factor 2 (Prothrombin) by PCR
| Sunquest Code: | F2MD | CoPath Code: | F2PCR |
| Epic Code: | LAB4906 | Epic Name: | F2 Prothrombin 20210A Mut Anal |
| Sunquest Code (non-Epic sites): | F2MA | ||
| Synonyms: | Factor 2 Mutation; Prothrombin 20210A Genetic Mutation; Molecular; Factor 2 Gene Interpretation, F2MA; F2MAR | ||
| Methodology: | SNP Genotyping of selected drug-metabolizing enzymes using Fluidigm BioMark HD and Life Technologies TaqMan® Reagents. | ||
| Turnaround Time: | Results are reported within 5 days. | ||
| Special Instructions: | A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. Bone Marrow Transplant Patients; If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available. | ||
| Associated Links: | |||
Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 10 mL |
| Minimum\Peds Volume: | 2 mL |
| Container: | Yellow (ACD, Solution A) tube available from laboratory (Orocollect Dx Buccal Swabs, Purple (EDTA)) |
| Causes for Rejection: | Frozen specimen; incorrect tube, clotted specimen, specimen more than 5 days old. Patients are only tested ONCE; if duplicate sample is collected, testing is canceled, credited and original results and collection date reported. Contact 612-273-8445 with questions. Testing requested on a sample punctured by an automated instrument. Add on testing to hematology samples is not accepted. DNA extracted at non-CLIA certified (or equivalent) lab. |
Processing and Shipping
| Specimen Processing: | Store blood at room temperature. |
| Shipping Instructions: | Ship at room temperature. |
| Test Performed at or Referral Lab | Molecular Diagnostics (UMMC-East Bank) |
Interpretive
| Reference Range: | Results are reported as "present" or "absent" for the mutation. Heterozygosity or Homozygosity is also determined. See interpretive report. |
| Use: |
A cause of inherited thrombophilia is a single point mutation in the prothrombin (Factor 2) gene. The prothrombin mutation has a prevalence of 1-2% in the general population and is thought to increase the risk of venous thrombosis by elevating the level of prothrombin in the blood. Preliminary studies indicate that the increased risk of venous thrombosis for patients with the prothrombin mutation is approximately 3-fold. Molecular based testing is the only accurate method for detecting the prothrombin mutation. The molecular test can be performed on both untreated and anticoagulated (heparin or warfarin) patients. Patients who previously tested negative for the Factor 5 Leiden mutation can have prothrombin gene mutation analysis performed using the original sample which has been stored by the Molecular Diagnostics Laboratory.
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