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ICD-10 Coding for MTHFR Deficiency(E72.12)

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

Also known as:

Methylenetetrahydrofolate Reductase DeficiencyMTHFR Mutation

Related ICD-10 Code Ranges

Complete code families applicable to MTHFR Deficiency

E70-E88Primary Range

Metabolic disorders

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

Key Information: ICD-10 code for MTHFR deficiency

Essential facts and insights about MTHFR Deficiency

The ICD-10 code for MTHFR deficiency is E72.12, used when there is a confirmed deficiency with clinical symptoms.

Primary ICD-10-CM Code for mthfr

Methylenetetrahydrofolate reductase deficiency
Billable Code

Decision Criteria

clinical Criteria

  • Presence of elevated homocysteine and confirmed mutation

Applicable To

  • Homozygous C677T mutation
  • Homozygous A1298C mutation

Excludes

  • Asymptomatic MTHFR polymorphism

Clinical Validation Requirements

  • Elevated homocysteine >15 µmol/L
  • Confirmed genetic mutation via PCR

Code-Specific Risks

  • Incorrectly coding asymptomatic carriers

Coding Notes

  • Ensure documentation specifies mutation type and clinical impact.

Ancillary Codes

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

Pregnancy complication due to metabolic disorder

O99.28
Use in conjunction with E72.12 for pregnant patients.

Differential Codes

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

Other thrombophilia

D68.69
Use when thrombophilia is present without confirmed MTHFR deficiency.

Documentation & Coding Risks

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

Impact

Clinical: May lead to inappropriate treatment., Regulatory: Non-compliance with documentation standards., Financial: Potential claim denials.

Mitigation Strategy

Use specific mutation terminology, Include lab results

Impact

Reimbursement: Incorrect claims may lead to denials., Compliance: Non-compliance with coding guidelines., Data Quality: Inaccurate patient records.

Mitigation Strategy

Only code E72.12 when there is a confirmed deficiency with clinical symptoms.

Impact

Lack of documentation for genetic testing necessity.

Mitigation Strategy

Ensure all tests are justified with clinical symptoms.

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 Deficiency, with expert answers to help guide accurate code selection and documentation.

Documentation Templates for MTHFR Deficiency

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

Pregnancy with MTHFR Deficiency

Specialty: Obstetrics

Required Elements

  • Mutation type and zygosity
  • Clinical impact on pregnancy
  • Treatment plan

Example Documentation

34yo G3P0020 with homozygous MTHFR C677T mutation, recurrent pregnancy loss, elevated homocysteine.

Examples: Poor vs. Good Documentation

Poor Documentation Example
Patient has MTHFR mutation.
Good Documentation Example
Homozygous C677T MTHFR polymorphism confirmed, serum homocysteine 24 µmol/L, history of 2 unexplained second-trimester losses.
Explanation
The good example provides specific mutation details and clinical impact.

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

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