MTHFR mutation screen

Methylenetetrahydrofolate reductase, encoded by MTHFR, is involved in the convertion of homocysteine to methionine and deficiency can result in homocystinuria. Polymorphisms in the MTHFR gene have also been associated with an increased risk of neural tube defects.
Raised plasma homocysteine levels are associated with an increased risk of vascular damage, heart disease, thrombosis and stroke. Severe MTHFR deficiency may result in neurological problems such as developmental delay, microcephaly and seizures. Severe MTHFR deficiency is autosomal recessive but heterozygotes may develop hyperhomocysteinemia.
Homocystinuria has an incidence between 1:50,000 and 1:200,000 but may be the result of mutations in the CBS gene, and potentially other genes, as well as MTHFR mutations.