1845. Package # 372 (Folate metabolism maxi)

Package No. 372 'Folate Metabolism Maxi' is an expanded diagnostic package that allows for an in-depth examination of folate metabolism – a critical process in the body that ensures proper nervous system function, hematopoiesis, and DNA replication, as well as the prevention of cardiovascular diseases and congenital defects in the fetus. This package includes determination of folate concentrations in various media (erythrocytes, plasma, whole blood), homocysteine ​​levels, vitamin B12 (cyanocobalamin), and genetic testing for gene polymorphisms involved in the folate cycle.

Package No. 372 ‘Folate Metabolism Maxi’ is a set of tests designed to identify folate cycle disorders, including the following parameters:

• Folates are a group of water-soluble B vitamins involved in DNA synthesis, protein methylation, and homocysteine.
  • Folates (erythrocyte concentration) – reflect the long-term status of folates in the body (unlike serum concentrations), as they accumulate in red blood cells during their maturation.
  • Folates (hematocrit) – an auxiliary indicator for assessing folate levels, taking into account the amount of blood cell mass.
  • Folates (whole blood) – an integrated indicator of the total folate content in plasma and cells.
• Folic acid (serum) – a water-soluble B vitamin, easily destroyed by heat, plays a role in growth and development. Folic acid is essential for red blood cell differentiation, normal bone marrow and nervous system function, cell division, and is crucial for proper fetal development.
• Homocysteine is an amino acid whose metabolism depends on folate, vitamins B12, and B6. Elevated homocysteine levels (hyperhomocysteinemia) are an independent risk factor for atherosclerosis, stroke, heart attack, thrombosis, miscarriage, and neural tube defects in the fetus.
• Cyanocobalamin (vitamin B12) is an essential cofactor for folate cycle enzymes.
• Genetic testing (PCR):
  Detection of polymorphisms in the genes encoding folate cycle enzymes allows for the assessment of the risk of metabolic disorders even before the onset of clinical symptoms.
  • MTHFR 677 C>T and 1298 A>C – mutations that can significantly reduce the activity of the methylenetetrahydrofolate reductase enzyme (MTHFR), leading to hyperhomocysteinemia and methylation disorders. Analysis of the methylenetetrahydrofolate reductase (MTHFR) gene polymorphism has prognostic value and allows us to determine the risk of developing cancer and cardiovascular diseases, as well as intrauterine developmental defects during pregnancy due to impaired folate metabolism and hyperhomocysteinemia, and to assess the likelihood of pathology in offspring.
  • MTR 2756 A>G and MTRR 66 A>G – mutations affecting the resynthesis of methionine homocysteine with the participation of vitamin B12. These mutations may be associated with infertility, pregnancy loss, increased risk of thrombosis, neuropsychiatric conditions, and cancer. Analysis of mutations in the folate cycle genes – methylenetetrahydrofolate reductase (MTHFR), reductase (MTRR) and methionine synthase (MTR) – allows us to determine the predisposition to fetoplacental insufficiency, neural tube defect, nondisjunction of chromosomes in meiosis and other fetal pathologies incompatible with life.

When?

• When planning a pregnancy (especially in cases of unsuccessful attempts, miscarriages, or a history of fetal malformations).
• In cases of infertility.
• During pregnancy – to monitor folate and B12 metabolism, especially in the first trimester.
• In case of the birth of a child with isolated neural tube, heart, or urogenital tract defects.
• In case of the birth of a child with chromosomal syndromes (with a normal karyotype of the parents).
• In case of megaloblastic anemia, macrocytosis.
• In case of an increased risk of cardiovascular disease or a strong family history.

Who should take it?

• Women and men with infertility.
• Patients who have been prescribed chemotherapy or radiation therapy.
• Patients with thrombophilia, thrombosis, or hyperhomocysteinemia.
• Individuals with chronic fatigue, depression, or cognitive impairment.
• Women considering gynecological issues (contraception, HRT).
• Patients on a vegan or vegetarian diet.
• Oncology patients or those with high cancer risk (stomach, colon, cervical cancer, etc.).

• Venous blood

In order to exclude factors that may affect the test results, we recommend to follow the preparation rules: