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
Lab: Cell Science Systems
Specimen: Swab (Blood - by request only.)
Results: Average processing time 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.
Medication and Supplement Instructions for CSS Testing:
- Testing does not need to be delayed because of medication or supplement use.
- Medications that are part of your daily routine should be continued as they are considered part of your normal physiological state.
- If possible, please avoid taking any oral medications, IV infusions, intramuscular (IM) injections, or oral supplements for 4 hours before blood draw.
- If you are taking medications that may impact white blood cell counts, it is recommended to collect an additional blood tube at the time of your draw.
- For short term medications (such as antibiotics) that will be discontinued, it is best to wait at least 2 weeks after completing the medication before completing your blood draw.
- If you are taking methylene blue, it is recommended to wait at least 72 hours after your last dose before proceeding with your blood draw for the Cellular Nutrition Assay.
- Fasting is not necessary
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.
There is no age restriction on this test.