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Test of MTHFR gene for Individualized drug administration

Omics test Model
Test Code MT
Test Summary Test for folic acid metabolic capacity.
Turn Around Time 5 days
Acceptable Sample Types DNA , Dried Blood Spots , Throat Swab , Whole Blood (EDTA)
NY Approved No
Accreditations CAP , EQA
*TAT starts after the sample and all required sample information is received, or after the benefits investigation is complete if requested for commercial insurance billing.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
This test is not available in your region United States, please select your nearest laboratory to request more information.
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Test Description

Folic acid is an essential element for the synthesis of nucleic acids, a necessary substance for cell growth and tissue repair, and an indispensable nutrient during embryonic development. By detecting the MTHFR and MTRR genes, we can discover the absorption and utilization levels of folic acid in different individuals, screen out high-risk groups for folic acid deficiency due to genetic factors, and achieve personalized folic acid supplementation, that is, folic acid supplementation plans and folic acid supplementation plans will be given individually for each individual.

Indications for Testing

  • Pregnant woman or plan for pregnacy.
  • Women who has given birth to baby with neural tube defects.
  • Habitual miscarriages.
  • People with a family history of cardiovascular disease.
    5.People with a history of anemia.

Condition Description

Folic acid metabolism disorders are caused by genetic (genes: MTHFR, MTRR) abnormalities that cause the body to use folic acid in a low capacity. In the body where genetic abnormalities occur, the activity of key enzymes involved in the folate metabolism pathway (methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR)) is weakened or disappears, resulting in abnormal folate metabolism, leading to an increase in the concentration of homocysteine in the blood due to folate deficiency, and thus causing a series of damage to the body.

Test Methods and Limitations

Fluorescent quantitative PCR is used to detect the genes MTHFR (5,10-methylenetetrahydrofolate reductase) and MTRR (methionine synthase reductase), which have well-established mechanisms and are closely related to folate metabolism.

Detailed Sample Requirements

DNA, Isolated
Test Details Page

Required DNA Quantity by Test Type*:

  • Next Generation Sequencing (NGS): Send >1000 ng total gDNA @ >15 ng/μL. Please ship samples in 10mM Tris. Do not use EDTA.
  • Sanger Sequencing: Send >500 ng total gDNA @ >15 ng/μL (varies by the size of the gene and the variants requested).
  • Non-Sanger Sequencing Tests: Send >500 ng total gDNA @ >15 ng/μL.
Sample Condition * Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8. A260/230 a ratio range of 1.8 to 2.2. Contact the laboratory for specific amounts if total ng cannot be met.
Shipping Ship overnight at ambient temperature.
Special Sample Instructions
  • Research Laboratories: DNA extracted in research laboratories is not acceptable. Only under exceptional circumstances (e.g., proband not available) will DNA extracted in a research laboratory be accepted for clinical testing. Additional testing (e.g., of other family members) may be required to confirm results.
  • Laboratories outside the United States: Non-US laboratories are not subject to CLIA regulations and will be reviewed on a case-by-case basis. Please call to speak with a laboratory genetic counselor before submitting a DNA sample from any non-CLIA-certified laboratory.
  • Special Notes: If extracted DNA is submitted, information regarding the method used for extraction should be sent along with the sample.
Whole Blood (EDTA)
Test Details Page
Collection Container(s) EDTA (purple top)
Collection Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.
Sample Condition Store at ambient temperature. Do not refrigerate or freeze.
Shipping Ship overnight at ambient temperature ensuring receipt within 5-days of collection.
Special Sample Instructions Clotted or hemolyzed samples are not accepted.
Dried Blood Spots
Test Details Page
Collection Container(s) Dried blood spot card

Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
Sample Condition Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping Follow kit instructions. Double bag and ship overnight at ambient temperature.