MTHFR Test - MTHFR Genotyping Laboratory Test - SpectraCell


Quick Overview

MTHFR Test by SpectraCell provides critical information relating the the most common MTHFR mutations: C677T and A1298C and the variants thereof. This MTHFR Test is critical to order should someone have cardiovascular risk, autism, chemical sensitivity, cancer risk, miscarriages or your doctor recommends it.* MTHFR Test is inexpensive compared to the lifelong benefits it can provide you. Insurance is NOT accepted for this test.

RESULTS: Dr. Ben will email the results of your lab test within 14 to 20 days along with brief interpretations and suggestions.

This test is available to residents in the United States, Canada and Puerto Rico only. Due to certain regulations this test is not available to Ohio and New York residents.

Please Note: All test results are sent to us confidentially and are emailed to the individual who ordered it. If exceptions occur, we must be notified directly.

Product Description

MTHFR is an enzyme responsible for converting 5,10-methylenetetrahydrofolate to the product 5-methyltetrahydrofolate - it is involved in the metabolism of folate and homocysteine. The product of the reaction catalyzed by MTHFR converts homocysteine (a potentially toxic amino acid) to methionine (a useful and necessary amino acid).*

Why is MTHFR Genotyping Important?

  • Certain mutations in the gene coding for MTHFR produce an enzyme that has reduced activity.
  • Reduced activity can lead to elevated levels of homocysteine (a.k.a. hyperhomocysteinemia), especially when folate levels are low.*
  • High homocysteine (>13umol/L) may double the risk of developing illness or complications.*
  • MTHFR genotyping may provide information about potential causes of elevated homocysteine and approaches for addressing it.*
  • Based on MTHFR and homocysteine results, physicians can develop dietary and medical recommendations - increased intake of folate alone or in combination with vitamins B6 and B12 are recommended.*
  • Based on results, recommendations for methotrexate dosage may be adjusted.*

Risks Associated with MTHFR Variants/High Homocysteine:

  • Cardiovascular Disease
  • Cerebral Vascular Disease (Stroke)
  • Venous and Arterial Thrombosis
  • Methotrexate Toxicity for Cancer Therapy

Who Should be Tested?

  • Those with high homocysteine levels.*
  • Those who have a familial history of cardiovascular disease, stroke or thrombosis.*
  • Those who are candidates for long-term methotrexate therapy.*

Collection/Packaging Instructions:


Whole blood is required.

Collect one purple top (EDTA) tube.

Do no centrifuge or freeze


Shipping Instructions:

Ship in the LPP kit or the micronutrient test kit provided




It is very important to receive the specimens the day after collection

Call FedEx for courier pickup ASAP at 800-463-3339, but no later than 3:00PM, Monday-Friday

Give your address as the pickup location


Report Delivery:

Results are typically available within 14-20 business days.

Reports are delivered via general mail or electronically (read below for details).

SpectraCell Laboratories now offers a test for the MTHFR gene, which is associated with elevated levels of the toxic amino acid homocysteine.  Individuals with specific mutations of the MTHFR (methylenetetrahydrofolate reductase) gene may have a higher risk for cardiovascular disfunction due to high levels of homocysteine in their blood.* 

MTHFR is an enzyme responsible for the proper metabolism of the harmful amino acid homocysteine into the benign amino acid methionine.   This metabolic process also needs folate and B vitamins to function properly. In people who carry the dangerous version of this gene, the enzyme does not work efficiently and higher than normal amounts of folate and vitamin B12 and B6 are used up in the process.*  

Consequently, these individuals may have a risk for developing cardiovascular disease since homocysteine acts like an abrasive to our blood vessels causing damage to the vascular wall when levels are chronically elevated (above 13umol/L).* 

Testing for mutations in the MTHFR gene is useful in identifying a cause for persistent hyperhomocysteinemia.*  For example, people with the dangerous version of the gene may tend to develop deficiencies in folate or vitamin B6 or B12, which can be treated.*   

Approximately 55% of the population carries one or more of the high risk variants within the MTHFR gene.*  About 10% of the population carries two copies of one of the high risk genes.  Specifically, low folate status affects those with the 677TT genotype much more than those with either the 677CC/CT genotypes, but these individuals also have a decreased risk for certain cancers.*  

SpectraCell identifies the two most common mutations that can occur in the MTHFR gene: one is located at position 677, the other at position 1298 within the gene.  Therefore, three possible genotypes exist for each of the locations on the gene: 677CC, 677CT, 677TT and 1298AA, 1298AC, 1298CC.   The highest risk for hyperhomocysteinemia is seen in people with the 677TT variant combined with 1298AC or 1298CC.* The frequency of the A1298C mutation is reported to be as high as 30% in the general population.* 

“One of the biggest benefits of this test is to determine the appropriate level of folate for healthy cardiovascular disease function.* Elevated homocysteine is quite common (over 10% of the world population), so there are a lot of people who might benefit from MTHFR testing.” states Dr. Jonathan 

Stein, PhD and Director of Science and Research at SpectraCell Laboratories.  “When it comes to supplementation, more is not always better.  It’s important to know whether or not a specific therapeutic dosage will work, and MTHFR testing helps a clinician know which dosage is optimal.*” 

SpectraCell uses PCR (polymerase chain reaction) technology to measure the MTHFR gene.  Since this is a genetic test and therefore results do not vary over time, it only needs to be done once per lifetime.  However, MTHFR genotyping is best when used in conjunction with additional genetic and lipid profile testing, and especially with micronutrient testing for folate and other B vitamins.  A simple non-fasting blood draw is all that is required.  The cash price of the MTHFR test is $150, although it is typically covered by insurance.

These statements have not been evaluated by the FDA. This product is not intended to diagnose, treat, cure, or prevent any disease.

Additional Information

Product Name MTHFR Test - MTHFR Genotyping Laboratory Test - SpectraCell
Return Policy This test is pre-paid. You may request a full refund if the test kit has not been used.
Does not contain Gluten, Dairy, Egg, Soy, Fish, Shellfish, Nuts, Corn, GMO, Prebiotics
Retail Price $0.00

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