Medical Coding and Genetic Mutations: Clinical Relevance of MTHFR and Other Harmful Variants
🧬 Understanding Genetic Mutations in Medical Coding: Focus on MTHFR and Other Clinically Relevant Mutations Introduction In modern healthcare, genetic mutations play a growing role in diagnosis, treatment planning, and risk assessment—especially in specialties like obstetrics, oncology, neurology, and pediatrics. For medical coders, it is crucial to understand what genetic mutations are , how they are documented, and when they are clinically significant enough to be coded using ICD-10-CM. What Is a Genetic Mutation? A genetic mutation is a change or variation in a gene . These changes can be: Inherited from parents, or Acquired over a person’s lifetime Think of your DNA as an instruction manual for your body. A mutation is like a spelling mistake in that manual. Some mutations have no effect, some are beneficial, and others can cause serious medical conditions. Why So Many Mutations Exist Human genetic diversity is vast. Over 430 million genetic variants (muta...