MTHFR (5,10-methylenetetrahydrofolate reductase) (eg, hereditary hypercoagulability) gene analysis, common variants (eg, 677T, 1298C)
CPT4 code
Name of the Procedure:
MTHFR (5,10-methylenetetrahydrofolate reductase) Gene Analysis, Common Variants (e.g., 677T, 1298C)
Summary
This test analyzes specific genetic variations in the MTHFR gene. These variations can affect how the body processes folate and homocysteine, which can be important for understanding hereditary hypercoagulability (an increased tendency to form blood clots).
Purpose
The procedure is used to identify specific mutations in the MTHFR gene that can lead to conditions like hereditary hypercoagulability. The primary goal is to assess the risk of developing blood clotting disorders and guide appropriate medical interventions.
Indications
- Family history of hypercoagulability or blood clotting disorders
- Recurrent miscarriages
- Thrombosis (blood clots) with no clear cause
- Elevated homocysteine levels in the blood
- Preconception or prenatal screening for genetic risk factors
Preparation
No special preparation is typically required. Patients should inform their healthcare provider about any medications they are taking, but fasting is generally not necessary.
Procedure Description
- A blood or saliva sample is collected from the patient.
- The sample is sent to a laboratory for DNA extraction.
- The extracted DNA is analyzed using specialized equipment to identify the presence of the MTHFR variants (677T, 1298C).
- Results are interpreted by a genetic specialist and shared with the patient.
Duration
The sample collection takes only a few minutes. Laboratory analysis may take a few days to a couple of weeks, depending on the facility.
Setting
The sample collection is usually performed in an outpatient clinic, doctor's office, or laboratory setting.
Personnel
- Phlebotomist or nurse (for blood sample collection)
- Laboratory technician (for DNA analysis)
- Genetic specialist or healthcare provider (for result interpretation and consultation)
Risks and Complications
The procedure is very low risk. Potential risks include minor discomfort or bruising at the site of blood sample collection.
Benefits
Identifying MTHFR gene mutations can help in understanding a patient's risk for blood clotting disorders and guide personalized medical management. This can significantly improve preventative care and treatment strategies.
Recovery
No recovery time is needed. Patients can resume normal activities immediately after the sample collection.
Alternatives
- Comprehensive genetic testing for other blood clotting disorders
- Homocysteine level blood test
- Clinical evaluation and family history assessment
Alternatives may offer different insights but might not directly identify MTHFR gene mutations.
Patient Experience
During the procedure, patients may feel a slight pinch or discomfort if a blood sample is taken. Collecting a saliva sample is generally painless. Post-procedure, there are no significant discomforts, and normal activities can be resumed immediately.