Name of the Procedure:

Prothrombin (Coagulation Factor II) Gene Analysis, 20210G>A Variant
Common name(s): Prothrombin gene mutation test, Factor II mutation test

Summary

Prothrombin gene analysis is a genetic test that identifies the presence of a specific mutation (20210G>A variant) in the prothrombin gene. This mutation can increase the risk of developing blood clots.

Purpose

This test is used to diagnose hereditary hypercoagulability, a condition where the blood has an increased tendency to clot. By identifying the 20210G>A variant in the prothrombin gene, healthcare providers can better predict a patient's risk of developing deep vein thrombosis (DVT) or pulmonary embolism (PE).

Indications

• Family history of blood clots or inherited clotting disorders
• Personal history of unexplained or recurrent DVT or PE
• Recurrent miscarriages
• Unusual blood clots in veins or arteries
• Assessment prior to surgery or when considering long-term use of oral contraceptives

Preparation

• No special preparation, fasting, or medication adjustments are typically required.
• Inform your physician about any family history of clotting disorders.
• A simple blood test is usually performed for the analysis.

Procedure Description

1. A blood sample is collected from a vein in the arm, using a needle and a blood collection tube.
2. The blood sample is sent to a laboratory where DNA extraction is performed.
3. The 20210G>A variant in the prothrombin gene is detected using molecular techniques such as PCR (polymerase chain reaction).
4. Results are analyzed and interpreted by a geneticist or specialist.

Duration

• The blood draw procedure typically takes about 5-10 minutes.
• The total time for obtaining results can vary but usually takes one to two weeks.

Setting

The blood draw is typically done in a hospital, outpatient clinic, or specialized laboratory.

Personnel

• Phlebotomist or nurse for the blood draw
• Laboratory technician or molecular geneticist for the DNA analysis

Risks and Complications

• Minor discomfort or bruising at the blood draw site
• Rarely, infection or phlebitis (inflammation of the vein)

Benefits

• Provides valuable information about the risk for thrombosis
• Helps tailor preventive measures and treatment plans
• Can guide decisions regarding surgery or contraceptive use

Recovery

• No specific recovery time needed
• Patients can resume normal activities immediately after the blood draw
• Follow-up discussions with your doctor to understand the test results and implications

Alternatives

• Other coagulation factor tests, such as Factor V Leiden mutation analysis
• Assessment based on personal and family medical history
• Regular thrombosis risk assessments

Patient Experience

During the procedure, the patient may feel a slight pinch or stinging when the needle is inserted. After the test, there might be minor bruising at the site, but this should resolve quickly. Overall, it is a minimally invasive and low-discomfort procedure.