A thrombophilia panel is a set of tests used to diagnose or rule out genetic or acquired conditions that can lead to excessive blood clotting (thrombosis). The mutations tested in this panel are,

Factor V Leiden: Factor V Leiden is a mutation of one of the clotting factors in the blood, known as Factor V. This mutation increases the risk of deep vein thrombosis (DVT) and pulmonary embolism (PE). People with this mutation have a higher tendency to form abnormal clots in blood vessels.

Factor II: Factor II, also known as prothrombin, is another clotting factor. Mutations in the factor II gene can lead to an increased risk of clot formation. Factor II mutations are associated with an elevated risk of DVT and PE.

MTHFR (Methylenetetrahydrofolate Reductase): MTHFR is an enzyme that plays a role in processing amino acids. Certain mutations in the MTHFR gene are associated with elevated levels of homocysteine. This amino acid, at high levels, is a risk factor for formation of blood clots. MTHFR mutations are also linked to conditions such as DVP, stroke, and cardiovascular diseases.

Individuals undergoing a thrombophilia panel are often those with a personal or family history of unexplained blood clots at a young age, recurrent miscarriages, or a strong family history of thrombotic events. The results of these tests can guide healthcare providers in determining appropriate treatments and preventive measures for individuals at risk for abnormal blood clotting disorders.