MTHFR Individual Gene-Cell Science Systems Kit

Note: This is a test kit that will be mailed to you. It can be performed using a swab or a blood draw. Unless we are told otherwise, the swabs will be sent to you. It is your responsibility to arrange for the blood draw for your kit should you choose the blood draw.

Fasting Required: No

Specimen: Swab or Blood - by request only.

Results: 10-15 business days
Note: Result turnaround times are an estimate and are not guaranteed. Our reference lab may need additional time due to weather, holidays, confirmation/repeat testing, or equipment maintenance.

Description: Folic acid (vitamin B9) passes through a complex metabolic pathway in order to be used in the methionine/homocysteine cycle. It is first converted to tetrahydrofolate (THF) then to 5,10-methylenetetrahydrofolate (5,10-CH2- THF).

MTHFR is needed to further convert 5,10-CH2-THF into active 5-methyltetrahydrofolate (5-MTHF), in order to convert methionine from homocysteine. This is where one genetic problem can occur. If the patient has particular genetic polymorphisms in the MTHFR gene, challenges can occur, converting folic acid into its active form 5-MTHF. If the patient acquired the SNPs from both parents (called homozygous positive), she/he probably has significantly reduced MTHFR activity and a marked deficiency in active 5-MTHF. If the patient received the SNP from only one parent (heterozygous positive) he/she may have suboptimal MTHFR function.

The SNPs investigated here are at position C677T and A1298C (Ala222Val and Glu429Ala). Testing these SNPs indicate how well homocysteine is cleared from the blood.30 Approximately 10% of Caucasian and Asian populations have 70% less activity (homozygote positive, diminished function). About 40% of the population (heterozygous appearance) have a diminished enzyme capacity to convert folic acid into (levomefolic acid) 5-MTHF.