MTHFR Gene Mutation Qualitative PCR Test
Short Name: MTHFR Gene Mutation PCR
Also known as: MTHFR Mutation Test, MTHFR C677T and A1298C Test, Methylenetetrahydrofolate Reductase Gene Test, MTHFR Qualitative Test, Folate Metabolism Gene Test
MTHFR Gene Mutation Qualitative PCR Test test available at DNA Labs India for ₹4,500. Uses Real Time PCR (Qualitative) on Whole Blood samples. Results in Results are typically available within 4 working days from the date of sample receipt at the laboratory. Reports can be accessed through the DNA Labs India online portal, received via email, or delivered through WhatsApp.. 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 purpose of the MTHFR Gene Mutation Qualitative PCR Test is to detect the presence of clinically significant genetic variants in the MTHFR gene, primarily C677T and A1298C, that impair folate metabolism and may lead to elevated homocysteine levels. This test aids in the evaluation of individuals with unexplained thromboembolic events, recurrent pregnancy loss, neural tube defect history, or cardiovascular risk factors. The results guide clinicians in developing personalized treatment plans including targeted folate supplementation, dietary modifications, and anticoagulation therapy when indicated.
- Test Code
- 1265
- CPT Code
- 81291
- ICD Code
- D68.59
- Price
- ₹4,500
- Sample Type
- Whole Blood
- Result Time
- Results are typically available within 4 working days from the date of sample receipt at the laboratory. Reports can be accessed through the DNA Labs India online portal, received via email, or delivered through WhatsApp.
- Fasting Required
- No
- Method
- Real Time PCR (Qualitative)
Sample Collection
Complete the Genomics Clinical Information Requisition Form (Form 20) with accurate clinical information, family history, and referring physician details. No fasting is required. Inform the phlebotomist of any recent blood transfusions or stem cell transplants.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 3 mL of whole blood via standard venipuncture into a Lavender Top (EDTA) tube. The collection process is similar to a routine blood draw and typically takes less than 5 minutes.
Report Delivery
The blood sample must be shipped refrigerated (2-8°C) to the laboratory. Do not freeze the sample. Ensure the sample reaches the laboratory within 72 hours of collection. The Genomics Clinical Information Requisition Form (Form 20) must accompany the sample.
Timeline: Results are typically available within 4 working days from the date of sample receipt at the laboratory. Reports can be accessed through the DNA Labs India online portal, received via email, or delivered through WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MTHFR Gene Mutation Qualitative PCR Test is to detect the presence of clinically significant genetic variants in the MTHFR gene, primarily C677T and A1298C, that impair folate metabolism and may lead to elevated homocysteine levels. This test aids in the evaluation of individuals with unexplained thromboembolic events, recurrent pregnancy loss, neural tube defect history, or cardiovascular risk factors. The results guide clinicians in developing personalized treatment plans including targeted folate supplementation, dietary modifications, and anticoagulation therapy when indicated.
How to Prepare
- Collect 3 mL (minimum 2 mL) of whole blood in one Lavender Top (EDTA) tube
- Gently invert the tube 8-10 times immediately after collection to ensure proper mixing with EDTA anticoagulant
- Ship the sample refrigerated (2-8°C) — do not freeze
- Room temperature stability is limited to 6 hours; refrigerated stability is up to 72 hours
- Ensure the duly filled Genomics Clinical Information Requisition Form (Form 20) accompanies the sample at all times
- Label the sample with patient name, date of birth, collection date and time, and collector's initials
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MTHFR gene mutations, particularly C677T and A1298C variants, are clinically relevant in the evaluation of recurrent pregnancy loss, unexplained thromboembolic events, and elevated homocysteine levels. Women planning pregnancy or experiencing recurrent miscarriages should consider MTHFR testing as part of a comprehensive thrombophilia workup. Identification of homozygous variants may guide folate supplementation strategies and anticoagulation decisions during pregnancy. This qualitative PCR test provides rapid and reliable detection to support timely clinical decision-making."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Frozen EDTA tube samples
- Samples received without the mandatory Genomics Clinical Information Requisition Form (Form 20)
- Samples exceeding stability limits (room temperature beyond 6 hours or refrigerated beyond 72 hours)
- Samples collected in incorrect tube type (non-EDTA anticoagulant)
- Unlabeled or mislabeled samples
Understanding Your Results
No MTHFR variants detected. Normal enzyme activity is expected. Standard folate supplementation is typically sufficient.
Low genetic risk for MTHFR-related folate metabolism impairment
One copy of the C677T variant detected. Approximately 35% reduction in MTHFR enzyme activity. Mildly elevated homocysteine may be present.
Mildly increased risk; clinical correlation with homocysteine levels recommended
Two copies of the C677T variant detected. Approximately 70% reduction in MTHFR enzyme activity. Significantly elevated homocysteine levels are common.
Moderately increased risk for thrombosis, cardiovascular disease, and pregnancy complications; active folate supplementation (L-methylfolate) and homocysteine monitoring recommended
A1298C variant detected. Moderate reduction in MTHFR enzyme activity, generally less clinically significant than C677T homozygosity.
Mild risk elevation; clinical significance increases if compound heterozygous with C677T
One copy of each variant detected. Enzyme activity reduction comparable to C677T homozygosity. Elevated homocysteine levels are likely.
Significantly increased risk; comprehensive thrombophilia workup, active L-methylfolate supplementation, and regular homocysteine monitoring recommended
Consult your healthcare provider if your test reveals any MTHFR variant, particularly homozygous C677T (TT) or compound heterozygous status. A referral to a hematologist, clinical geneticist, or maternal-fetal medicine specialist may be warranted if you have a history of unexplained blood clots, recurrent miscarriages, neural tube defects in offspring, early-onset cardiovascular disease, or persistently elevated homocysteine levels. Your doctor can advise on appropriate folate supplementation (L-methylfolate vs. folic acid), dietary modifications, and whether anticoagulation therapy is indicated.
Limitations
- ⚠This test is qualitative and does not quantify the percentage of enzyme activity reduction
- ⚠Only the two most common MTHFR variants (C677T and A1298C) are detected; rare variants are not covered
- ⚠Detection of MTHFR variants does not confirm disease; clinical correlation with homocysteine levels and other thrombophilia markers is necessary
- ⚠This test does not replace comprehensive thrombophilia panels that include Factor V Leiden, Prothrombin G20210A, and other genetic markers
- ⚠Results must be interpreted by a qualified healthcare provider in the context of the patient's full clinical history
- ⚠Maternal MTHFR genotype alone cannot predict neural tube defect risk in all cases
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site, which typically resolves within 1-2 days
- ●Fainting or dizziness during blood draw (rare, inform the phlebotomist if you have a history of needle anxiety)
- ●Minimal risk of infection at the puncture site, which is mitigated by standard sterile collection protocols
- ●Psychological impact of receiving genetic risk information; genetic counseling is recommended before and after testing
Interfering Factors
- ●Contaminated or degraded blood samples may affect PCR amplification efficiency
- ●Recent blood transfusion within the past 30 days may yield non-representative results
- ●Hemolyzed or clotted samples are unsuitable for analysis and will be rejected
- ●Failure to complete the Genomics Clinical Information Requisition Form (Form 20) may delay processing
- ●Improper sample storage (freezing the EDTA tube or excessive delay at room temperature) can compromise DNA integrity
Compare With Similar Tests
| Test | MTHFR Gene Mutation Qualitative PCR Test | Factor V Leiden Mutation Test | Prothrombin Gene (G20210A) Mutation Test | Homocysteine Level Test | Comprehensive Thrombophilia Panel |
|---|---|---|---|---|---|
| Comparison | MTHFR Gene Mutation Qualitative PCR Test |
Frequently Asked Questions
What is the MTHFR gene and why is it important?
What are the common MTHFR gene mutations detected by this test?
Who should consider getting the MTHFR gene mutation test?
How is the MTHFR gene mutation test performed?
What is the cost of the MTHFR Gene Mutation Qualitative PCR Test at DNA Labs India?
Do I need to fast before the MTHFR gene mutation test?
How long does it take to get the MTHFR test results?
What does a positive MTHFR mutation result mean?
Can MTHFR mutations be treated?
What is the difference between a qualitative and quantitative MTHFR test?
Is the MTHFR gene mutation test covered by insurance in India?
Can I take the MTHFR gene mutation test at home?
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