Home Genetic Tests Clinical Genomics MTHFR Gene Polymorphisms
Clinical · Metabolic
Sanger Sequencing · 2 Variants

MTHFR Gene Polymorphisms

Understand Your Folate Metabolism. Prevent Silent Health Risks.

The MTHFR gene controls how your body processes folate (vitamin B9) — essential for DNA synthesis, repair, and methylation. Variants in this gene affect 60–70% of the population and can silently elevate homocysteine levels, increasing risk for cardiovascular disease, pregnancy complications, blood clotting disorders, and affecting medication metabolism. This Sanger sequencing test analyzes both common MTHFR variants (677C>T and 1298A>C) to reveal your risk profile and enable personalized prevention.

★★★★★
5.0 (Verified clinical test) NABL & CAP lab
Sample type
Blood + Saliva
Turnaround
3–4 weeks
Variants tested
677C>T & 1298A>C
Technology
Sanger Sequencing
MTHFR Gene Polymorphism Test
Two MTHFR variants analyzed
677C>T
C677T Variant
Substitution of cytosine with thymine at position 677. Homozygous individuals may have up to 70% reduction in MTHFR enzyme activity — significantly elevating homocysteine levels.
Up to 70% enzyme reduction (homozygous)
1298A>C
A1298C Variant
Substitution of adenine with cytosine at position 1298. Milder impact alone, but compound heterozygotes (one copy each) still experience reduced enzyme activity.
Compound heterozygous risk when combined
How MTHFR affects your health
The Folate Methylation Pathway
Folate (B9)
MTHFR Enzyme
5-MTHF (Active)
Homocysteine
Methionine
When MTHFR variants are present, the enzyme works less efficiently — folate is not fully converted to its active form, homocysteine builds up instead of converting to methionine, and key cellular processes like DNA methylation and neurotransmitter synthesis are impaired.
What you'll discover

Cardiovascular risk

Elevated homocysteine from MTHFR variants raises risk of heart attacks, strokes, and thrombosis

Silent CVD risk

Pregnancy complications

Risk for recurrent miscarriage, preeclampsia, neural tube defects, and preterm birth

Fertility insights

Blood clotting risk

Thrombophilia risk — tendency for blood clot formation in veins (DVT) or arteries

Thrombosis risk

Medication response

Methotrexate metabolism — affects dosing for cancer, autoimmune diseases, ectopic pregnancies

Drug metabolism

Neuropsychiatric risk

Associations with depression, anxiety, and cognitive function through impaired neurotransmitter synthesis

Mental wellness

Folate & B12 guidance

Personalized supplementation — whether you need active L-methylfolate instead of regular folic acid

Supplement plan
How it works
1

Order online

Place your order. Your home collection kit ships within 24 hours — blood collection tube and saliva swab included.

2

Blood + Saliva sample collection

2ml EDTA blood + saliva swab at home. Return using the prepaid courier label provided in your kit.

3

Sanger sequencing analysis

Both MTHFR variants (677C>T and 1298A>C) analyzed using Sanger sequencing — the gold standard for targeted variant analysis — in our NABL & CAP accredited lab.

4

Report + personalized recommendations

Detailed MTHFR report in 3–4 weeks with variant status (normal/heterozygous/homozygous), health risk interpretation, and personalized supplement and lifestyle recommendations.

Sample report preview

Your MTHFR Gene Report

A snapshot of your MTHFR polymorphism analysis

677C>T Status
Heterozygous
One copy detected
1298A>C Status
Normal
No variant detected
Enzyme Activity
~65%
Mildly reduced
Homocysteine Risk
Moderate
Monitor & supplement
677C>T genotype
1298A>C genotype
Enzyme activity estimate
Homocysteine risk level
Supplement recommendations
Clinician-ready report
Frequently asked questions
Who should consider MTHFR testing?
MTHFR testing is recommended for women with recurrent pregnancy loss, preeclampsia, or neural tube defects in a previous pregnancy; couples experiencing fertility difficulties; individuals with a personal or family history of blood clotting disorders or cardiovascular disease; those about to start methotrexate therapy; anyone with unexplained elevated homocysteine levels; and people with a family history of MTHFR variants.
What does a positive MTHFR result mean?
A positive result (finding a variant) means you carry one or two copies of an MTHFR polymorphism. The health implications depend on which variant(s) are found and whether you are heterozygous (one copy) or homozygous (two copies). Most people with MTHFR variants live normal, healthy lives with appropriate management — typically including supplementation with active L-methylfolate (5-MTHF) rather than regular folic acid, lifestyle adjustments, and regular homocysteine monitoring.
Can MTHFR variants be treated?
While MTHFR genetic variants cannot be changed, their health impact can be effectively managed. Key interventions include supplementing with active L-methylfolate (5-MTHF) instead of standard folic acid — since the MTHFR enzyme cannot convert regular folate, the active form bypasses this step. Additionally, B12 and B6 supplementation, dietary changes, homocysteine monitoring, and appropriate medical management of any associated conditions can significantly reduce health risks.
How common are MTHFR variants?
MTHFR variants are very common — approximately 60–70% of people carry at least one MTHFR polymorphism. The 677C>T variant is particularly common in South Asian populations. Having a variant does not mean you will develop health problems — it simply means you have a genetic predisposition that may benefit from proactive management and monitoring.
Is my data safe?
Yes. Your genetic data is protected under ISO 27001, HIPAA, and GDPR standards. It is never shared with insurance companies, employers, or any third party without your explicit consent. You retain full ownership and control of your information.
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🧬 Clinical Genomics · Metabolic
₹4,500
  • Both MTHFR variants: 677C>T & 1298A>C
  • Sanger sequencing — gold-standard accuracy
  • Homocysteine risk assessment
  • Personalized supplement recommendations
  • NABL & CAP accredited lab
  • Clinician-ready report
Quantity
1
Secure checkout · SSL encrypted
Free pan-India shipping
Results in 3–4 weeks
Data never shared with insurers
NABL & CAP accredited
Genomic Expert Consultation — Available
After results, our Genomic Expert can review your MTHFR status and help create a personalized supplement and monitoring plan.
Appointment link sent via email after order confirmation.
NABL & CAP

Accredited lab

Sanger Sequencing

Gold-standard method

Both Variants

677C>T & 1298A>C

ISO 27001

Data security

100% Private

GDPR compliant

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