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E72.12
ICD-10-CM
MTHFR Deficiency

Find comprehensive information on MTHFR gene mutation diagnosis, including clinical documentation, medical coding (ICD-10 codes), and healthcare implications. Learn about MTHFR deficiency testing, symptoms, treatment options, and the role of genetic testing in personalized medicine. Explore resources for healthcare professionals on documenting MTHFR variants and associated conditions. Understand the importance of accurate MTHFR coding for reimbursement and research. This resource provides valuable insights into MTHFR gene mutations for patients and healthcare providers.

Also known as

Methylenetetrahydrofolate Reductase Deficiency
MTHFR Mutation

Diagnosis Snapshot

Key Facts
  • Definition : Reduced ability to process folate, affecting DNA synthesis and other functions.
  • Clinical Signs : Often asymptomatic, but may include fatigue, anxiety, depression, or neural tube defects in offspring.
  • Common Settings : Primary care, cardiology, prenatal care, mental health

Related ICD-10 Code Ranges

Complete code families applicable to AAPC E72.12 Coding
E70-E90

Metabolic disorders

Covers inborn errors of metabolism affecting various bodily processes.

D51-D53

Other nutritional anemias

Includes anemias related to deficiencies like folate, which MTHFR can influence.

Z00-Z99

Factors influencing health status

Can be used to document MTHFR as a risk factor for other conditions.

Code-Specific Guidance

Decision Tree for

Follow this step-by-step guide to choose the correct ICD-10 code.

Is the MTHFR deficiency causing any other diagnosable condition?

  • Yes

    What condition is caused by the MTHFR deficiency?

  • No

    Code Z88.81 for history of inherited thrombophilia.

Code Comparison

Related Codes Comparison

When to use each related code

Description
MTHFR gene variant
Hyperhomocysteinemia
Folate deficiency anemia

Documentation Best Practices

Documentation Checklist
  • MTHFR gene variant(s) documented (e.g., C677T, A1298C)
  • Homocysteine level documented
  • Symptoms related to MTHFR deficiency noted
  • Folate/B12 levels (if tested)
  • Relevant family history documented

Mitigation Tips

Best Practices
  • Prioritize folate-rich foods, not folic acid.
  • Supplement with methylated B vitamins like B12, B6.
  • Manage stress through relaxation techniques, yoga.
  • Consider genetic testing for personalized treatment.
  • Consult with a healthcare professional for guidance.

Clinical Decision Support

Checklist
  • Elevated homocysteine level documented?
  • MTHFR gene variant confirmed by genetic testing?
  • Rule out other causes of hyperhomocysteinemia?
  • Document family history of MTHFR or related conditions?

Reimbursement and Quality Metrics

Impact Summary
  • MTHFR Deficiency reimbursement hinges on accurate ICD-10 coding (E72.81) linked to specific manifestations, impacting payer coverage and revenue cycle.
  • MTHFR gene variant testing (CPT 81291/81292) coding accuracy directly affects claim denial rates and hospital bad debt.
  • Quality metrics for MTHFR deficiency are indirectly impacted by appropriate diagnosis coding for associated conditions like venous thromboembolism.
  • Proper documentation of MTHFR-related complications improves risk adjustment and hospital quality reporting data accuracy.

Streamline Your Medical Coding

Let S10.AI help you select the most accurate ICD-10 codes. Our AI-powered assistant ensures compliance and reduces coding errors.

Quick Tips

Practical Coding Tips
  • Code MTHFR gene variant, not deficiency
  • Use Z86.73 for personal history
  • Document specific variant like C677T or A1298C
  • Add ICD-10 for any thrombophilia
  • Consider SNOMED CT for precision

Documentation Templates

Patient presents with concerns regarding MTHFR gene mutation, methylenetetrahydrofolate reductase deficiency, and its potential implications for their health.  Symptoms reported include fatigue, brain fog, anxiety, depression, or other nonspecific symptoms often associated with MTHFR polymorphisms.  Family history may be positive for conditions linked to MTHFR variants such as recurrent pregnancy loss, neural tube defects, or cardiovascular disease.  Physical examination findings are generally unremarkable, although specific neurological signs or symptoms may be present depending on individual patient presentation.  Diagnostic testing includes MTHFR gene variant analysis, specifically looking for C677T and A1298C polymorphisms.  Homocysteine levels may be elevated, indicating impaired folate metabolism.  Differential diagnosis includes other causes of hyperhomocysteinemia, vitamin B12 deficiency, and other genetic disorders.  Treatment plan may involve nutritional interventions such as increased intake of folate, B vitamins, and addressing any identified nutritional deficiencies.  Genetic counseling is recommended to discuss the implications of MTHFR variants for the patient and their family.  Patient education focuses on lifestyle modifications, dietary recommendations, and the importance of ongoing monitoring.  The prognosis for individuals with MTHFR polymorphisms varies depending on the specific variant and individual factors.  ICD-10 code E72.8 is used for disorders of folate metabolism.  CPT codes for MTHFR gene testing vary depending on the specific test performed, generally falling under molecular pathology codes.  Medical necessity for testing and treatment is determined based on patient symptoms, family history, and clinical presentation.  Follow-up appointments will be scheduled to monitor treatment efficacy and adjust management as needed.
MTHFR Deficiency - AI-Powered ICD-10 Documentation