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The methylenetetrahydrofolate reductase (MTHFR) mutation test is used to detect two relatively common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood. It is not routinely ordered.
A serum TSH measurement is required for confirming that an elevated thyroid hormone level is due to hyperthyroidism and not a thyroid hormone binding protein abnormality (such as FDH). A serum TSH measurement is the primary test for detecting amiodarone-induced thyroid dysfunction (see Guideline 5). As shown in Table 1, binding protein abnormalities or assay technical problems are the most common causes for a discordant FT4/TSH relationship.