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MTHFR gene Thrombophilia

The MTHFR (Thrombophilia) gene is responsible for the metabolism of folate and homocysteine. Its mutations are associated with high levels of homocysteine, which induce thrombophilia. Thrombophilia in turn gives:

  1. increased cardiovascular risk
  2. infertility / recurrent pregnancies

In the analysis of the gene two distinct mutations are detected:

a. MTHFR (C677T): The mutation plays a role in both heterozygotes (carry the mutation from one parent only) and homozygotes (transmission of mutation from both parents).

Homozygotes at C677T amount to 11% of the Caucasian population. This particular mutation in homozygosity may cause severe hyperhomocysteinemia in case of dietary folate deficiency. Hyperhomocysteinemia has been associated with:

  • with a threefold risk for early cardiovascular diseases in the presence of other risk factors.
  • severe form of preeclampsia.

MTHFR (A1298C): The particular mutation has an effect on people who carry the mutation MTHFR (C677T) Thus heterozygotes at A1298c (carry the mutation from one parent only) if they are also heterozygotes at the C677T mutation, will show higher homocysteine levels at reduced folate levels.

In addition, this mutation is an independent risk factor for hypertension.

Negative for MTHFR(C677T) and MTHFR(A1298C) mutations

Simple blood collection at any time of the day, without preparing food or avoiding medication.

Possibility of sending a sample

For information: 210.6983.222

Results in 4-5 working days

The cost of an individual test (MTHFR gene) for each individual mutation is 50 euros*.

The examination is prescribed at the EOPYY**, with the participation of the examinee as defined in the referral (15%, unless otherwise stated)

*25-80% discount is applied when participating in the simultaneous detection of multiple thrombophilia genes. In the CVD-20 co-detection panel of 20 factors, the proportional cost of each detected mutation is €9.

**In our center we have doctors with the right to prescribe EOPYY prescriptions

Information selected - indicative with sources: Interpretation of Diagnostic Tests - J.Wallach and

The choice and explanation of the use of the analysis is the exclusive responsibility of your doctor

Edited by : Ioannis Grattisia Head of Laboratory / MSc Clinical Biochemistry - Molecular Biology

April 2019

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