Test Type: Kit Based, Buccal Swab

Overview:

The MTHFR (methylenetetrahydrofolate reductase) gene produces an enzyme involved in the processing of folate and regulation of homocysteine in the body. Folate is a critical nutrient involved in methylation, DNA synthesis, and amino acid metabolism. Impaired folate metabolism due to MTHFR enzyme inactivity or a low folate level results in elevated plasma homocysteine. Homocysteine is an amino acid synthesized by the body through demethylation of methionine. In the presence of adequate B-vitamins, homocysteine is either irreversibly degraded to cysteine or it is remethylated back to methionine, an essential amino acid. An elevated homocysteine level is known to be an independent risk factor for ischemic stroke, thrombotic and cardiovascular diseases. Folate, vitamin B6 and vitamin B12 are all necessary molecules for the proper conversion of homocysteine into methionine. A deficiency in any one of these molecules can cause homocysteine levels to rise.

Collection Details:

Collection Instructions:

1. Please fill out all sections of the requisition form provided in your kit.

2. Rinse your mouth with cold water before you begin collecting your sample and then swallow to remove excess saliva.

3. Open one swab at a time and collect the sample by rubbing the swab on the inside of your cheek about 20 times or for 15-20 seconds in a circular motion. Swab firmly so that the cheek is pushed outward.

4. Dry the swab by shaking it in the air for 10-20 seconds.

5. Place the dried swab back in its original sleeve.

6. Use the other cheek for the next swabs. Repeat the same process for the rest of the swabs.  Collect sample on all 3 swabs.

6. Place the swab sleeves containing the dry swabs and Requisition Form in the Kashi paper envelope included in the kit.

7. [Important] Sign and fill in your name and date of sample collection on the envelope.

 

8. Ship the test kit back to the laboratory using the shipping mailer provided.