Thrombophilia Mutation Testing

Thrombophilia means an increased tendency for blood to clot. It develops as a combination of inherited genetic predisposition and external factors, such as long travel without movement, surgery, injury, smoking, being overweight, certain medications or hormonal treatment.

When blood is more prone to clotting, the risk of a blood clot, or thrombus, increases. Most commonly, this involves deep vein thrombosis in the lower limbs. Part of the clot may break off and travel to the lungs, where it can cause pulmonary embolism, a condition that requires urgent medical attention.

During pregnancy, increased blood clotting may contribute to problems involving the placenta. In some women, this may lead to complications such as pregnancy loss, fetal growth restriction, preeclampsia, placental abruption or premature birth. However, there may be several causes, and not every complication is related to thrombophilia.

When Does Testing Make Sense

Thrombophilia mutation testing is mainly considered if:

You have had venous thrombosis or pulmonary embolism, especially at a younger age, without an obvious cause or repeatedly.

Thrombosis or pulmonary embolism has occurred in close relatives.

You are planning to use, or are already using, hormonal contraception or hormonal treatment. The risk is assessed individually.

Severe complications have occurred repeatedly during pregnancy and a comprehensive risk assessment is appropriate, often in cooperation with a haematologist and gynaecologist.

Knowing about a genetic predisposition is also useful in situations such as surgery, long term immobilisation, the postpartum period or long distance travel, meaning periods when the general risk of thrombosis increases.

What Is Tested Genetically?

The test usually focuses on the most common clinically significant mutations associated with venous thrombosis:

Factor V Leiden mutation

F5 / factor V

~ 5–10 %

Prothrombin G20210A mutation

F2 / factor II

~ 1–2 %

ANXA5 haplotype, M2**

ANXA5 / annexin V

~ 10–15 %

* Approximate population data
** For ANXA5, the clinical significance, especially in relation to reproduction, may be individual and is assessed in the context of the full medical history. It is often considered in couples with recurrent pregnancy loss or IVF failure, usually in both partners.

How Are the Mutations Inherited?

For the two most common thrombophilia mutations in the F5 and F2 genes, autosomal dominant inheritance with incomplete penetrance applies:

If you are heterozygous, meaning you carry one copy of the mutation, there is a 50% risk that you will pass it on to your child.

If you are homozygous, meaning you carry two copies of the mutation, you will always pass it on to your child.

Important: a positive result does not mean that thrombosis will definitely occur. The risk is also significantly influenced by lifestyle and other factors.

What Is the Risk for Carriers?

For some thrombophilia mutations, the risk of venous thrombosis is increased compared with the general population, often several fold. The level of risk usually depends on the specific variant and on whether the person is heterozygous or homozygous.

Thrombosis usually occurs when several additional risk factors are present at the same time, such as:

Age, being overweight, smoking

Surgery, especially orthopaedic surgery, injuries or long term immobilisation

Hormonal contraception or hormonal therapy

Pregnancy and the postpartum period

Cancer and cancer treatment

Autoimmune diseases, such as antiphospholipid syndrome

Dehydration, long flights or long journeys

What Should You Do If a Mutation Is Found?

A positive result is mainly information for prevention and planning. We typically recommend:

Consulting the result with a clinical geneticist and, depending on the situation, also with a haematologist.

Lifestyle measures, including regular movement, adequate hydration, not smoking and maintaining a healthy weight.

An individual plan for risk periods, such as surgery, immobilisation, pregnancy or long flights. In some cases, targeted prevention may be appropriate, while in others lifestyle measures are sufficient.

Specialised Laboratory: GNTlabs by Gennet

GNTlabs by GENNET is one of the leading genetic laboratories in Central Europe and continues the work of the Gennet clinics, dating back to 1996.

We specialise in reproductive genetics — preconception, preimplantation, and prenatal — as well as postnatal genetics. We work with clinical centres across Europe and provide molecular genetic diagnostics at a high professional standard.

Close cooperation with the clinics and their patients allows us to apply innovative methods not only in specialised cases, but also in the routine diagnostic work on every sample.

More About GNTlabs

Frequently Asked Questions

How long does it take to get results?

Additional genetic tests

Turnaround times vary depending on the test. We will always inform you of the expected timeline upon ordering.

How much do genetic tests cost?

Additional genetic tests

In medically indicated cases, testing may be covered by health insurance. For self-paid options, prices vary based on the type and scope of the test.

Do I need a referral from a doctor?

Additional genetic tests

For most tests, a referral from your physician to a genetic consultation is recommended. The clinical geneticist will then determine the appropriate indication. Some tests, such as thrombophilia mutations, may be referred directly by your gynecologist. For self-pay tests like paternity testing, no referral is needed.

Schedule an appointment for a genetic consultation.

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