MTHFR stands for methylenetetrahydrofolate reductase. The MTHFR gene produces an enzyme responsible for a multi-step process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds. The disorders of folate metabolism caused by polymorphism of the MTHFR gene generally occurs through the mutation of C677T and A1298C p.Glu429Ala that reduces the functional ability of the MTHFR enzyme and causes an increase in levels of homocysteine in the blood as well as dysregulation of various important enzymes responsible to maintain the homeostasis in the body. MTHFR mutations have been linked to various adverse pregnancy outcomes: specifically, early fetal loss (most commonly defined as spontaneous abortion in the first or second trimester), late fetal loss (death in the third trimester), pre- ecclampsia, intrauterine growth retardation, placental abruption and neural tube defects.  Homozygotes for the c.665C>T variant have been significantly associated with elevated plasma homocysteine levels and with an increased risk for premature cardiovascular disease. These individuals may also show toxicity from methotrexate that affect folate metabolism used for treatment of AML, CML and arthritis.

Mylab Discovery Solutions’ Oncoscreen MTHFR genotyping Kit is designed to screen the polymorphism (C677T and A1298T) of MTHFR gene using a real time allele-specific multiplex PCR with human genomic DNA