Learn about MTHFR gene mutation diagnosis, including clinical documentation, medical coding (ICD-10), healthcare implications, and genetic testing information. Understand MTHFR variants, methylenetetrahydrofolate reductase deficiency, and related health risks. Find resources for MTHFR mutation testing and support for patients with this genetic variation.
Also known as
Other nutritional anemias
This code can be used for MTHFR-related anemia if B12/folate deficiency is present.
Encounter for screening for oth. spec. dis.
Use this code for encounters specifically for MTHFR mutation screening.
Personal history of thrombophilia
If MTHFR is associated with a history of clotting disorders, this code may be appropriate.
Follow this step-by-step guide to choose the correct ICD-10 code.
Is the MTHFR mutation associated with any clinical manifestations?
Yes
What is the manifestation?
No
Code Z83.42 for MTHFR gene mutation status without related manifestations.
When to use each related code
| Description |
|---|
| MTHFR gene variant |
| Hyperhomocysteinemia |
| Venous thromboembolism (VTE) |
Using unspecified MTHFR mutation codes (e.g., Z83.79) when a more specific code is documented, impacting reimbursement and data accuracy.
Coding MTHFR mutation without clear documentation of medical necessity and its impact on patient care, leading to denials.
Misinterpretation of genetic test results and incorrect coding of MTHFR variants, causing inaccurate diagnosis and treatment plans.
Patient presents with [signs/symptoms such as fatigue, anxiety, depression, recurrent pregnancy loss, neural tube defects in offspring, or other relevant symptoms] prompting evaluation for methylenetetrahydrofolate reductase (MTHFR) gene mutation. Past medical history includes [list relevant medical history, e.g., hyperhomocysteinemia, venous thromboembolism, coronary artery disease, stroke, or other conditions potentially associated with MTHFR mutations]. Family history is significant for [mention relevant family history, e.g., MTHFR mutations, neural tube defects, or related conditions]. Physical examination reveals [document relevant findings]. Differential diagnosis includes [list potential alternative diagnoses, e.g., vitamin B12 deficiency, folate deficiency, other thrombophilias]. MTHFR gene mutation testing (specifically C677T and A1298C variants) was ordered. Preliminary assessment suggests a possible link between the patient's symptoms and a potential underlying MTHFR mutation. Genetic counseling may be considered to discuss the implications of MTHFR gene mutations. Further investigation and monitoring are warranted to assess the clinical significance of the MTHFR gene mutation and determine appropriate management strategies. Treatment plan includes [mention specific interventions such as dietary modifications, folic acid supplementation, B vitamin supplementation, or other relevant treatments]. Patient education provided regarding MTHFR gene mutations, lifestyle modifications, and the importance of follow-up. ICD-10 code [e.g., D51.3, Z83.79 depending on the manifestation] and CPT code [e.g., 81291, 81292, depending on the specific MTHFR gene mutation test performed] will be used for billing and coding purposes. Follow-up scheduled to review test results and adjust management accordingly.