Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) Test
Short Name: MTHFR Gene Test
Also known as: MTHFR Mutation Test, MTHFR C677T and A1298C Test, Folate Metabolism Gene Test, MTHFR Genotyping, MTHFR Variant Analysis
Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) Test test available at DNA Labs India for ₹6,000. Uses Real-Time PCR (Polymerase Chain Reaction), Allele-Specific Amplification on Peripheral Blood samples. Results in 3-4 business days from sample collection. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The MTHFR gene test is performed to identify genetic variants that may impair folate metabolism and lead to elevated homocysteine levels. This test helps clinicians assess an individual's genetic predisposition to cardiovascular disease, thromboembolic events, recurrent pregnancy loss, and neural tube defects. It also guides personalized treatment decisions, including the appropriate form and dosage of folate supplementation.
- Test Code
- 3089
- CPT Code
- 81291
- ICD Code
- D72.89
- Price
- ₹6,000
- Sample Type
- Peripheral Blood
- Result Time
- 3-4 business days from sample collection
- Fasting Required
- No
- Method
- Real-Time PCR (Polymerase Chain Reaction), Allele-Specific Amplification
Sample Collection
No special preparation or fasting is required. A doctor's prescription is recommended. Prescription is not applicable for surgery, pregnancy cases, or individuals planning to travel abroad.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 2 mL of peripheral blood via venipuncture into an EDTA vacutainer. The procedure typically takes less than 5 minutes.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball or gauze for 3-5 minutes. A small bandage will be placed. Avoid heavy lifting with the affected arm for a few hours. Results will be available within 3-4 days via online portal, email, or WhatsApp.
Timeline: 3-4 business days from sample collection
Patient Instructions
About This Test
Who Should Get This Test
The MTHFR gene test is performed to identify genetic variants that may impair folate metabolism and lead to elevated homocysteine levels. This test helps clinicians assess an individual's genetic predisposition to cardiovascular disease, thromboembolic events, recurrent pregnancy loss, and neural tube defects. It also guides personalized treatment decisions, including the appropriate form and dosage of folate supplementation.
How to Prepare
- No fasting is required before sample collection
- Carry a doctor's prescription if available
- Inform the phlebotomist of any anticoagulant medications being taken
- Stay hydrated before the blood draw
- Wear loose-fitting clothing to allow easy access to the arm
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MTHFR gene variants, particularly C677T and A1298C, are clinically relevant in the context of recurrent pregnancy loss, unexplained infertility, and adverse pregnancy outcomes such as neural tube defects. Women planning pregnancy or experiencing recurrent miscarriages should consider MTHFR genotyping alongside homocysteine level assessment. Identification of clinically significant variants allows for targeted supplementation with L-methylfolate rather than standard folic acid, which may not be adequately metabolized in individuals with reduced MTHFR enzyme activity. Early identification enables proactive management to improve pregnancy outcomes and reduce cardiovascular risk."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed sample
- Sample collected in incorrect container (non-EDTA)
- Insufficient sample volume (less than 1 mL)
- Sample without proper labeling or identification
- Severely contaminated sample
Understanding Your Results
C677T: CC (Wild Type) and A1298C: AA (Wild Type)
Low genetic risk for MTHFR-related complications. Routine folate intake is generally sufficient.
C677T: CT (Heterozygous) and A1298C: AA (Wild Type)
Mildly reduced folate metabolism. May benefit from L-methylfolate supplementation. Monitor homocysteine levels if symptomatic or during pregnancy.
C677T: TT (Homozygous) and A1298C: AA (Wild Type)
Significantly reduced folate metabolism. Elevated homocysteine levels likely. L-methylfolate supplementation recommended. Regular cardiovascular monitoring advised. Genetic counseling recommended.
C677T: CC (Wild Type) and A1298C: AC (Heterozygous)
Mildly reduced enzyme function. Generally considered lower clinical impact than C677T. Monitor if symptomatic.
C677T: CC (Wild Type) and A1298C: CC (Homozygous)
Moderate reduction in folate metabolism. May contribute to elevated homocysteine. Supplementation and monitoring may be warranted.
C677T: CT (Heterozygous) and A1298C: AC (Heterozygous) — Compound Heterozygous
Clinically significant reduction in MTHFR activity. Elevated homocysteine risk. L-methylfolate supplementation recommended. Cardiovascular and pregnancy-related monitoring advised. Genetic counseling strongly recommended.
Consult your doctor if you have a family history of MTHFR variants, recurrent miscarriages, unexplained blood clots, elevated homocysteine levels, or a personal or family history of cardiovascular disease. If your test results show any variant, discuss the findings with a genetic counselor or your physician to develop an appropriate management plan including supplementation and monitoring.
Limitations
- ⚠This test detects only the two most common MTHFR variants (C677T and A1298C); other rare variants are not covered
- ⚠Genetic test results indicate predisposition and do not confirm the presence of disease
- ⚠Results should be interpreted in conjunction with clinical findings, homocysteine levels, and family history
- ⚠This test does not replace comprehensive thrombophilia panels when indicated
- ⚠Enzyme activity may vary based on additional genetic and environmental factors not assessed by this test
Risks & Considerations
- ●Minor bruising or soreness at the blood draw site
- ●Slight risk of infection at the puncture site (extremely rare)
- ●Fainting or lightheadedness during or after blood draw (uncommon)
Interfering Factors
- ●Recent blood transfusion may affect DNA quality and test accuracy
- ●Contamination of the blood sample during collection or transport
- ●Improper storage or handling of the sample prior to analysis
- ●Concurrent use of anticoagulant therapy may affect sample integrity in rare cases
Compare With Similar Tests
| Test | Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) | Homocysteine Test | Comprehensive Thrombophilia Panel |
|---|---|---|---|
| Comparison | Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C) | The MTHFR gene test identifies genetic variants that may cause elevated homocysteine, while the homocysteine test measures the actual level of homocysteine in the blood. Both tests are complementary and often ordered together. | A thrombophilia panel evaluates multiple genetic and acquired risk factors for blood clots, including Factor V Leiden and Prothrombin mutations. The MTHFR test focuses specifically on folate metabolism variants and is often included as part of a broader thrombophilia workup. |
Frequently Asked Questions
What is the MTHFR gene test?
Who should get the MTHFR gene test?
What do MTHFR C677T and A1298C variants mean?
Is fasting required for the MTHFR gene test?
What sample is needed for the MTHFR gene test?
How long does it take to get MTHFR gene test results?
What is the cost of the MTHFR gene test at DNA Labs India?
Can MTHFR variants cause miscarriages?
What is the treatment for MTHFR gene variants?
Are MTHFR variants common in the Indian population?
Is the MTHFR gene test covered by insurance in India?
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