MTHFR Gene Thrombophilia

What Is the MTHFR Gene and Thrombophilia?

The MTHFR gene (Methylenetetrahydrofolate Reductase) is responsible for the metabolism of folic acid and homocysteine. Mutations in this gene are associated with elevated homocysteine levels, which can lead to thrombophilia (a tendency to develop blood clots). Thrombophilia can result in:

  • Increased Cardiovascular Risk
  • Infertility / Recurrent Miscarriages
Where Used

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

a. MTHFR (C677T): This mutation affects both heterozygotes (carrying the mutation from one parent) and homozygotes (receiving the mutation from both parents).

Homozygotes for C677T mutation make up about 11% of the Caucasian population. Homozygosity for this mutation can cause severe hyperhomocysteinemia (high homocysteine levels) in the case of folic acid deficiency. Associated Risks:

  • Triple the risk of early cardiovascular diseases especially when combined with other risk factors.
  • Severe form of preeclampsia.

b. MTHFR (A1298C): This mutation affects those who carry the MTHFR (C677) Heterozygotes for A1298C (carrying the mutation from one parent) who are also heterozygotes for C677T show higher homocysteine levels when folic acid levels are low.

his mutation is also an independent risk factor for hypertension.

Reference Values ​​-Normal Laboratory :

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

PREPARATION

Your tests with analytical systems and reagents top quality SIEMENS-USA BECMAN COULTER-USA

Check Up Medicus | Biopathology Diagnostic Center Athens | Medical Center | Blood Tests - Prices - Costs - Covid-19 Test - Allergies | EOPYY.
Check Up Medicus | Biopathology Diagnostic Center Athens | Medical Center | Blood Tests - Prices - Costs - Covid-19 Test - Allergies | EOPYY.
01.

For the morning blood draw and
examination, it is proposed :

A simple blood draw at any time of the day, without food preparation or avoiding medication intake.

Sample Submission Capability

For more information, please contact us at 210.6983.222

02.

TIME OF RESULTS

  • Results in 4-5 business days.
03.

COSTING

Cost of Individual Test (MTHFR Gene) each individual mutation test costs €50*.

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

A discount of 25-80% applies when participating in the simultaneous detection of multiple thrombophilia genes. In the CVD-20 panel for simultaneous detection of 20 factors, the proportional cost per detected mutation is €9.

Related Checkups

Homocysteine

Factor V Leiden (G1601A)

PROTHROMBIN (G20210A)

FXIII (V34L)

thrombophilia panel CVD-20

HR2 (H1299R)

β-fibrinogen (-455G/A)

PAI-1 (-675 4G/5G)

PAI-1 (-844G/A)

APOB

GPIa (C807T)

GPIIIa

ACE

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Informative Blogs: checkup.com.grnosileftis24.grsyntagografisis.grtestcovid.gr

Biopathology Diagnostic Center – Athens | Medical Center Check Up Medicus | Checkup – Allergy Test – Blood Tests – Prices – Cost – Covid-19 Test | EOPYY.

Panormou Diagnostic Center 40, Ampelokipoi | Diagnostic Center Alexandra Avenue 110 | Diagnostic Center Prykiponnision 24, Gyzi Polygono Kypseli

Check Up Medicus

Appointment

At Check-Up Medicus you can come for a blood draw without an appointment

The checkup for the MTHFR gene is typically included in the laboratory checkup for thrombophilia, a condition that affects the process of blood clotting and bleeding. The MTHFR gene encodes an enzyme responsible for converting folic acid into a form necessary for the metabolism of homocysteine into methyltetrahydrofolic acid (5-MTHF).

Identifying mutations in this gene can indicate an increased risk of thrombosis or other bleeding disorders.

Mutations in the MTHFR gene can impact the metabolism of folic acid and lead to lower levels of methyltetrahydrofolic acid (5-MTHF). This can result in higher concentrations of homocysteine in the blood, which is associated with an increased risk of thrombosis.

The checkup for the MTHFR gene can be crucial for individuals with a history of thromboembolic events or other bleeding disorders, as well as for those with other risk factors. Identifying mutations in this gene can help in taking preventive measures to reduce the risk of thrombosis, such as taking folic acid supplements or other medications.

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