Common mistakes around MTHFR lab testing include overinterpreting a positive result (e.g., C677T variant) as a direct cause of serious illness. In reality, the clinical impact is often small: heterozygous carriers have only mildly reduced enzyme activity, and elevated homocysteine is not guaranteed. Many commercial labs upsell expensive panels without medical necessity. Another error is ignoring that low folate or B12 may stem from diet or absorption issues, not genetics. Self-prescribing high-dose methylfolate can cause side effects. The evidence for routine MTHFR screening in healthy individuals is weak. Without homocysteine, B12, and folate blood levels, the genetic result alone is not actionable. Beware of marketing that turns a benign variant into a disease label.
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