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
Metabolic disorders
Covers inborn errors of metabolism affecting various bodily processes.
Other nutritional anemias
Includes anemias related to deficiencies like folate, which MTHFR can influence.
Factors influencing health status
Can be used to document MTHFR as a risk factor for other conditions.
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.
When to use each related code
Description |
---|
MTHFR gene variant |
Hyperhomocysteinemia |
Folate deficiency anemia |
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.