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Home/Diagnosis/ICD-10 Coding for MTHFR Mutation

ICD-10 Coding for MTHFR Mutation

E72.12
O99.28

Complete ICD-10-CM coding and documentation guide for icd-10 coding for mthfr mutation includes clinical validation requirements, medical necessity guidelines, and coding policies.

Also Known as:
Methylenetetrahydrofolate Reductase Deficiency
MTHFR Gene Mutation
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Key Information: ICD-10 Coding for MTHFR Mutation

Essential facts and insights about ICD-10 Coding for MTHFR Mutation

Use ICD-10 code E72.12 for methylenetetrahydrofolate reductase deficiency, ensuring proper documentation in clinical notes.

Primary ICD-10-CM Codes

Methylenetetrahydrofolate reductase deficiency

Billable Code
E72.12
Billable

Diagnostic Criteria

clinical:
  • • Presence of clinical symptoms and confirmed genetic mutation
coding:
  • • Avoid using for asymptomatic genetic findings

Applicable To

  • • MTHFR deficiency with clinical manifestations

Important Notes

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

Other specified diseases and conditions complicating pregnancy, childbirth and the puerperium

Non-Billable
O99.28
Non-Billable

Diagnostic Criteria

clinical:
  • • Pregnancy with documented MTHFR mutation and complications

Applicable To

  • • Metabolic disorders complicating pregnancy

Important Notes

  • • Always sequence as primary in pregnancy cases.
Ancillary Codes

Additional codes that may be used with this diagnosis

R79.89

Other specified abnormal findings of blood chemistry

Use to indicate elevated homocysteine levels.

Frequently Asked Questions

How is MTHFR mutation coded in ICD-10?

MTHFR mutation is primarily coded as E72.12 for symptomatic cases. For pregnancy-related complications, use O99.28 as the primary code.

Can MTHFR mutation be coded without symptoms?

No, asymptomatic MTHFR mutations should not be coded as E72.12. Use Z84.89 for family history without symptoms.

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