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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:
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:
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 https://labtestsonline.org
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
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