Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis

This test measures MTHFR, an enzyme critical for processing folate and producing molecules needed for DNA synthesis and methylation. MTHFR enzyme deficiency is a rare inherited metabolic disorder causing severe neurological problems, including intellectual disability, seizures, and movement disorders. Genetic variations (polymorphisms) in the MTHFR gene are common but usually don't cause disease. However, actual enzyme deficiency requires specialized treatment with folinic acid and other supplements. This test is ordered when genetic MTHFR deficiency is suspected based on neurological symptoms or family history.

This category encompasses laboratory test results that have been sent to a specialized reference laboratory for advanced or specialized testing. Reference labs perform complex analyses that are not available at routine hospital or clinic labs, such as genetic testing, specialized microbiology cultures, or complex immunological assays. Results from these tests provide detailed diagnostic information for uncommon or complicated medical conditions.