Prothrombin gene mutation

This code represents a genetic alteration in the prothrombin (Factor II) gene, specifically the G20210A mutation, which leads to increased prothrombin levels. This mutation is a common inherited thrombophilia, predisposing individuals to an elevated risk of venous thromboembolism (VTE).

Use this code for patients diagnosed with a confirmed prothrombin gene mutation, typically identified through genetic testing. This diagnosis is often made in individuals with a personal or family history of unexplained thrombotic events, such as deep vein thrombosis (DVT) or pulmonary embolism (PE). Documentation should clearly state the presence of the prothrombin gene mutation.

• Do not confuse this with other inherited thrombophilias like Factor V Leiden mutation (D68.51).
• Code this as a primary diagnosis when the prothrombin gene mutation is the reason for the encounter, or as a secondary diagnosis when it is an underlying risk factor for another condition being treated.
• Ensure genetic testing results or physician documentation explicitly confirm the prothrombin gene mutation.