SpectraCell Laboratories Offers MTHFR Genetic Testing

SpectraCell Laboratories now offers a test for the MTHFR gene, a defect in which causes elevated levels of the toxic amino acid homocysteine, which results in higher risk for heart attack, stroke or dementia. This is a simple genetic test that is typically covered by insurance and allows a clinician to treat cases of high homocysteine much more effectively.

Online PR News – 19-November-2010 – – Houston, TX- 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 have a much higher risk for heart disease, stroke and dementia 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 tend to develop 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 cardiovascular disease risk reduction purposes. 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. For more information, go to www.spectracell.com.


About SpectraCell Laboratories – SpectraCell is a CLIA accredited laboratory that services healthcare providers nationwide by providing advanced clinical testing with micronutrient testing and the Lipoprotein Particle Profile™ (LPP).

SpectraCell’s micronutrient testing is an innovative assessment of a patient’s nutritional status. Unlike traditional serum, hair and urine tests, SpectraCell’s micronutrient testing measures how an individual’s white blood cells function in specific nutritional environments. Over 32 vitamins, minerals, amino acids and antioxidants are evaluated. As a result, individual differences in metabolism, age, genetics, health, prescription drug usage, absorption rate and other factors are taken into consideration.

SpectraCell’s Lipoprotein Particle Profile™ is the most advanced lipoprotein test available. Unlike traditional cholesterol tests, SpectraCell’s LPP™ directly measures both the size (density) and number of several classes of lipoprotein particles providing an accurate assessment of cardiovascular risk.