Factor V Leiden Mutation PCR

Factor V Leiden is a genetic mutation that increases your chances of forming abnormal blood clots. It is an inherited disorder of blood clotting. If the history of factor V Leiden thrombophilia runs deep in your family, you are at a high risk of contracting it yourself. 

Specifics of Factor V Leiden Mutation PCR Test

The presence of factor V and prothrombin proteins in your body is essential for proper blood clot formation. In case of a bleeding injury, these proteins begin a hemostasis process to stop the bleeding.

Factor V Leiden gene mutation occurs when your body produces excessive blood clots that can cause a blockage in blood vessels. People suffering from this inherited disorder are at a high risk of developing a form of blood clot called deep venous thrombosis (DVT).

These clots generally occur in the legs, although they can also occur in other body parts such as the brain, liver, eyes, and kidneys.

Since the mutation is associated with an increased risk of miscarriage, women are 2 or 3 times more likely to have multiple miscarriages during the 2nd or 3rd trimester.

A few studies show that it could also involve the risk of pregnancy complications, including high BP, slow fetal growth, and placental abruption.

The Factor V Leiden mutation PCR test is advised when your doctor suspects an inherited risk factor of blood clots. The test may also be suggested if a parent or sibling has a Factor V Leiden gene mutation.

The test results indicate whether an individual has one or two copies of Factor V Leiden mutation. If there is one copy, the individual is heterozygous, and if there are two copies, the individual is homozygous.

However, cases with homozygous mutation are rare amongst individuals. For people affected by the heterozygous mutation, there can be a mild to moderate increase in the production of thrombin within their bodies.

Regular testing and diagnosing the mutation may help you identify the mutation and find appropriate treatment for it.

Who Should Get Tested?

It is recommended to get yourself tested if you have a family history of Factor V Leiden mutation. The risks of excessive clotting can vary from person to person. If you have previously suffered from blood clots, you are more likely at an increased risk of having another clot. The testing is specifically recommended if you are less than 50 years old, have unexplained blood clots, or have frequent episodes of deep venous thrombosis or venous thromboembolism.

Medically reviewed by Dr. Soumya Bhattacharya, Haemotologist from Apollo Multispeciality Hospitals , Kolkata.