Folate Metabolism Genetic Screening

A lack of folic acid during early pregnancy can cause fetal neural tube defects and affect development of the brain and spine, which can in-turn lead to congenital malformations such as neonatal spina

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Folic acid (Folate) is a water-soluble B-vitamin involved in the production of red blood cells.

■ The importance of Folate

• Helping the human body utilize protein and amino acids

• Generating DNA and RNA

• Providing raw material for red blood cell production

• Essential for red blood cell production

• Promoting the development of the brain and nervous system in fetuses

■ MTHFR gene and Folate metabolism

The MTHFR gene is located on chromosome 1 location p36.3. When food containing folic acid is ingested, the MTHFR enzyme which produced by MTHFR gene participates in the metabolic reaction of converting folic acid into a form for body to absorb.

Mutations in the MTHFR gene affect the ability of the human body to absorb folic acid and cause high homocysteine levels. This increases the risk of cardiovascular diseases and megaloblastic anemia in adults and also affects fetal neural tube development.


◆ Women who have previously given birth to babies with neural tube defects

◆ Women that have experienced recurrent miscarriage

◆ Women with a family history of cardiovascular disease

◆ Women with a history of anemia

◆ Individuals who are interested in learning more about their medical condition


■ Pregnant Women Need More Folic Acid Than the Average Adult

Mutations in the MTHFR gene affect the absorption of folic acid, which can lead to folate deficiency. If expecting mothers are not absorbing enough folic acid, they
will likely feel tired and dizzy or display shortness of breath. A lack of folic acid can also lead to anemia and increase the chance of miscarriage or premature birth.

■ MTHFR Genotypes

At present, more than 40 types of MTHFR mutations have been reported.

The most common mutation affecting folate metabolism is the C677T variant of the MTHFR gene.

Patient Story

How It Works

Step 1:2-3 c.c. of peripheral blood is collected and stored in EDTA blood collection tube

Step 2:DNA extraction in the laboratory

Step 3:Perform genetic testing on the MTHFR gene

Step 4:The report will be available in 10 working days


According to the Health Promotion Administration of the Ministry of Health and Welfare in Taiwan, the recommended daily intake of folic acid for adults, pregnant mothers, and breastfeeding mothers is 0.4 mg, 0.8 mg, and 0.5 mg, respectively.