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