ICD-10 Coding for MTHFR Gene Mutation(E72.12, O99.28)
Complete ICD-10-CM coding and documentation guide for MTHFR Gene Mutation. Includes clinical validation requirements, documentation requirements, and coding pitfalls.
Also known as:
Related ICD-10 Code Ranges
Complete code families applicable to MTHFR Gene Mutation
E72.1-E72.9Primary Range
Disorders of amino-acid metabolism
Includes MTHFR deficiency and related metabolic disorders.
Endocrine, nutritional and metabolic diseases complicating pregnancy, childbirth and the puerperium
Used when MTHFR mutation complicates pregnancy.
Code Comparison: When to Use Each Code
Compare key differences between these codes to ensure accurate selection
| Code | Description | When to Use | Key Documentation |
|---|---|---|---|
| E72.12 | Methylenetetrahydrofolate reductase deficiency | Use when MTHFR mutation is confirmed and associated with clinical symptoms. |
|
| O99.28 | Other specified diseases and conditions complicating pregnancy, childbirth and the puerperium | Use when MTHFR mutation complicates pregnancy. |
|
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 gene mutation
Essential facts and insights about MTHFR Gene Mutation
Primary ICD-10-CM Codes for mthfr gene mutation
Decision Criteria
clinical Criteria
- Confirmed genetic mutation and elevated homocysteine
documentation Criteria
- Documented genetic test results
Applicable To
- Confirmed MTHFR enzyme deficiency
Excludes
- Hyperhomocysteinemia without MTHFR mutation
Clinical Validation Requirements
- Genetic testing confirming MTHFR mutation
- Elevated homocysteine levels (>15 µmol/L)
Code-Specific Risks
- Using without genetic confirmation
- Misclassification with hyperhomocysteinemia
Coding Notes
- Ensure genetic confirmation is documented before using E72.12.
O99.28 - Other specified diseases and conditions complicating pregnancy, childbirth and the puerperium
Use when MTHFR mutation complicates pregnancy.
Applicable To
- Pregnancy complications due to metabolic disorders
Excludes
- Pregnancy without complications
Clinical Validation Requirements
- Pregnancy with documented MTHFR mutation complications
Coding Notes
Ensure pregnancy complication is documented.
Ancillary Codes
Additional codes that should be used in conjunction with the main diagnosis codes when applicable.
Differential Codes
Alternative codes to consider when ruling out similar conditions to the primary diagnosis.
Hyperhomocysteinemia
E72.11Documentation & Coding Risks
Avoid these common documentation and coding issues when documenting MTHFR Gene 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: May lead to misdiagnosis or inappropriate treatment., Regulatory: Non-compliance with documentation standards., Financial: Potential claim denials or audits.
Mitigation Strategy
Document specific homocysteine levels, Link findings to genetic results
Impact
Reimbursement: Claims may be denied without genetic confirmation., Compliance: Non-compliance with coding guidelines., Data Quality: Inaccurate clinical data representation.
Mitigation Strategy
Ensure genetic testing confirms MTHFR mutation before coding.
Impact
Lack of genetic test documentation for MTHFR coding.
Mitigation Strategy
Ensure all genetic test results are documented and accessible.
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 Gene Mutation, with expert answers to help guide accurate code selection and documentation.
Documentation Templates for MTHFR Gene Mutation
Use these documentation templates to ensure complete and accurate documentation for MTHFR Gene Mutation. These templates include all required elements for proper coding and billing.
Pregnancy with MTHFR mutation
Specialty: OB-GYNRequired Elements
- Genetic test results
- Pregnancy history
- Homocysteine levels
- Treatment plan
Example Documentation
Examples: Poor vs. Good Documentation
Poor Documentation Example
Good Documentation Example
Explanation
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