Fast and Easy Detection of MTHFR
Lamp Human Methylenetetrahydrofolate reductase mutation kit (rs1801133)
Risk Factors of Genetic Thrombosis:
An in vitro diagnostic test that allows the detection and genotyping of a single point mutation (C677T) of the human MTHFR gene, referred to as MTHFR mutation, directly from human whole blood.
Methylenetetrahydrofolate reductase (MTHFR) catalyzes the synthesis of 5-methyltetrahydrofolate, a methyl donor in the conversion of homocysteine to methionine. Patients with severe MTHFR deficiency have hyperhomocysteinemia, hypomethioninemia, and a range of neurological and vascular findings with a variable age at onset*1.
*1 “Rosenblatt, D. S.; Lue-Shing, H.; Arzoumanian, A.; Low-Nang, L.; Matiaszuk, N. : Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts. Biochem. Med. Metab. Biol. 47: 221-225, 1992 “