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ICD-10 Coding for MTHFR Mutation(E72.12, O99.28)

Complete ICD-10-CM coding and documentation guide for MTHFR Mutation. Includes clinical validation requirements, documentation requirements, and coding pitfalls.

Also known as:

Methylenetetrahydrofolate Reductase DeficiencyMTHFR Gene Mutation

Related ICD-10 Code Ranges

Complete code families applicable to MTHFR Mutation

E70-E88Primary Range

Metabolic disorders

This range includes metabolic disorders, under which MTHFR deficiency is categorized.

Pregnancy, childbirth and the puerperium

This range is relevant for coding MTHFR complications during pregnancy.

Code Comparison: When to Use Each Code

Compare key differences between these codes to ensure accurate selection

CodeDescriptionWhen to UseKey Documentation
E72.12Methylenetetrahydrofolate reductase deficiencyUse when there is documented enzyme deficiency and clinical manifestations.
  • Genetic test confirming pathogenic variants
  • Elevated homocysteine levels
  • Clinical symptoms such as thrombosis or pregnancy loss
O99.28Other specified diseases and conditions complicating pregnancy, childbirth and the puerperiumUse as primary code for pregnancy-related MTHFR complications.
  • Pregnancy with documented MTHFR mutation and complications

Clinical Decision Support

Always review the patient's clinical documentation thoroughly. When in doubt, choose the more specific code and ensure documentation supports it.

Key Information: ICD-10 code for MTHFR mutation

Essential facts and insights about MTHFR Mutation

MTHFR mutation is coded as E72.12 for symptomatic cases. Use O99.28 for pregnancy complications.

Primary ICD-10-CM Codes for mthfr mutation

Methylenetetrahydrofolate reductase deficiency
Billable Code

Decision Criteria

clinical Criteria

  • Presence of clinical symptoms and confirmed genetic mutation

coding Criteria

  • Avoid using for asymptomatic genetic findings

Applicable To

  • MTHFR deficiency with clinical manifestations

Excludes

  • Asymptomatic MTHFR polymorphisms

Clinical Validation Requirements

  • Genetic test confirming pathogenic variants
  • Elevated homocysteine levels
  • Clinical symptoms such as thrombosis or pregnancy loss

Code-Specific Risks

  • Incorrectly coding asymptomatic carriers

Coding Notes

  • Ensure clinical symptoms are documented before using E72.12.

Ancillary Codes

Additional codes that should be used in conjunction with the main diagnosis codes when applicable.

Other specified abnormal findings of blood chemistry

R79.89
Use to indicate elevated homocysteine levels.

Differential Codes

Alternative codes to consider when ruling out similar conditions to the primary diagnosis.

Cystathionine beta-synthase deficiency

E72.11
Differentiate based on normal methylmalonic acid levels in MTHFR deficiency.

Documentation & Coding Risks

Avoid these common documentation and coding issues when documenting MTHFR Mutation to ensure proper reimbursement, maintain compliance, and reduce audit risk. These guidelines are particularly important when using ICD-10 code E72.12.

Impact

Clinical: Inadequate patient care, Regulatory: Non-compliance with coding standards, Financial: Potential claim denials

Mitigation Strategy

Ensure all symptoms are documented, Review genetic test results

Impact

Reimbursement: May lead to claim denials., Compliance: Non-compliance with coding guidelines., Data Quality: Inaccurate patient records.

Mitigation Strategy

Use Z84.89 for family history without symptoms.

Impact

Coding E72.12 without symptoms can trigger audits.

Mitigation Strategy

Use Z codes for asymptomatic cases.

Documentation errors, coding pitfalls, and audit risks are interconnected aspects of medical coding and billing. Addressing all three areas helps ensure accurate coding, optimal reimbursement, and regulatory compliance.

Frequently Asked Questions

Common questions about ICD-10 coding for MTHFR Mutation, with expert answers to help guide accurate code selection and documentation.

Documentation Templates for MTHFR Mutation

Use these documentation templates to ensure complete and accurate documentation for MTHFR Mutation. These templates include all required elements for proper coding and billing.

Pregnancy with MTHFR mutation

Specialty: OB/GYN

Required Elements

  • Genetic test results
  • Clinical symptoms
  • Treatment plan

Example Documentation

34yo G3P0 with homozygous MTHFR C677T mutation, recurrent pregnancy loss, fasting homocysteine 19.8 µmol/L.

Examples: Poor vs. Good Documentation

Poor Documentation Example
Patient has MTHFR mutation.
Good Documentation Example
Homozygous MTHFR C677T mutation confirmed, fasting homocysteine 22.4 µmol/L, history of 2 unexplained fetal demises.
Explanation
The good example provides specific genetic and clinical details.

Need help with ICD-10 coding for MTHFR Mutation? Ask your questions below.

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