A Genetic Test Many Doctors Recommend, But Few Labs Explain Clearly
If your doctor has mentioned the MTHFR gene, or if you have been researching unexplained pregnancy loss, elevated homocysteine, or your child’s autism diagnosis, you have likely come across this test without a clear understanding of what it actually reveals.
The MTHFR Mutation Test looks at a specific gene responsible for how your body processes folate. Unlike a blood folate level, which simply tells you how much folate is present, this test tells you whether your body’s genetic machinery can convert that folate into a usable, active form. A normal folate level combined with an MTHFR mutation can still mean your cells are not getting the folate they need.
At Altus Lab, this test is available across India at ₹6,500, with every report reviewed under the supervision of Dr. Alok Gupta, MD Pathology, Ex-PGIMER.
What Is the MTHFR Gene and Why Does It Matter?
MTHFR stands for Methylenetetrahydrofolate Reductase, an enzyme that converts dietary folate into its active, usable form — L-methylfolate. This active form is essential for a process called methylation, which affects DNA repair, neurotransmitter production, detoxification, and the breakdown of homocysteine, an amino acid linked to cardiovascular and neurological health.
Certain genetic variations in the MTHFR gene — most commonly known as C677T and A1298C — reduce the efficiency of this enzyme. When the enzyme works less efficiently, folate is not properly converted, homocysteine can build up in the blood, and methylation processes throughout the body slow down.
Consequently, someone with an MTHFR mutation may have completely normal dietary folate intake and normal serum folate levels, yet still experience the downstream effects of poor folate utilisation. This is precisely why the MTHFR Mutation Test looks directly at the gene, rather than relying on blood folate levels alone.
Who Should Consider This Test?
The MTHFR Mutation Test is relevant across several different health situations, not just one specific condition. Consider this test if you or a family member have:
- A child with autism spectrum disorder, particularly alongside elevated homocysteine or a positive FRAT test result
- A history of recurrent pregnancy loss or difficulty conceiving
- Elevated homocysteine levels found on a previous blood test
- A personal or family history of blood clots, stroke, or early cardiovascular disease
- Neural tube defect history in a previous pregnancy
- Symptoms of poor methylation — such as chronic fatigue, mood disturbances, or brain fog that has not responded to standard folate supplementation
Furthermore, this test is frequently ordered alongside the FRAT test and homocysteine testing as part of a broader autism or metabolic workup, since these three results together provide a much clearer picture of folate-related dysfunction than any single test alone.
MTHFR Test Variants — C677T and A1298C Explained
The MTHFR Mutation Test at Altus Lab evaluates the two most clinically significant variants of this gene.
C677T Variant
This is the most extensively studied MTHFR variant. Individuals can be heterozygous, meaning they carry one copy of the mutation, or homozygous, meaning they carry two copies. Homozygous C677T individuals typically show the most significant reduction in enzyme activity and the highest likelihood of elevated homocysteine.
A1298C Variant
This variant tends to have a milder individual effect, but when present alongside a C677T mutation on the opposite gene copy — a combination known as compound heterozygous — the combined impact on folate metabolism can be comparable to homozygous C677T.
Your Altus Lab report will clearly indicate which variant, or combination of variants, you carry, giving your doctor precise information to guide any recommended treatment, typically involving methylfolate supplementation rather than standard folic acid.
How the Test Works — Available Across India
Getting tested is straightforward, whether you live in Chandigarh or anywhere else in India.
You begin by contacting Altus Lab through a phone call or WhatsApp message to schedule your sample collection. A trained phlebotomist then visits your home to draw a small blood sample, so no travel to a lab is required. The sample is transported to Altus Lab in Chandigarh under proper handling protocols and analysed using validated genetic testing methodology. Finally, Dr. Alok Gupta reviews your report before it is released, ensuring the result is accurate and clinically contextualised.
Because this is a genetic test rather than a metabolic snapshot, your result remains valid for life — the test only needs to be performed once.
MTHFR Mutation Test Cost in India
The MTHFR Mutation Test through Altus Lab is priced at ₹6,500, offered at this same transparent rate across India regardless of your city. This single price includes the genetic analysis for both the C677T and A1298C variants, along with a specialist-reviewed report.
Home sample collection is available nationwide at no additional premium, ensuring families outside major metro cities have equal access to this genetic test.
MTHFR Test vs. FRAT Test — Understanding the Difference
Many families researching autism or folate-related concerns encounter both the MTHFR Mutation Test and the FRAT Test, and understandably wonder how they differ.
The FRAT test looks for autoantibodies that block folate receptors, primarily affecting how folate crosses into the brain and cerebrospinal fluid. The MTHFR test, on the other hand, examines a fixed genetic variation that affects how efficiently the body converts folate into its active form throughout the entire body, not just the brain.
Because these two tests examine entirely different mechanisms, they are not interchangeable, and many specialists recommend both together for a comprehensive understanding of a child’s or adult’s folate metabolism. A person can have a normal MTHFR result and still test positive on the FRAT test, or vice versa, which is why combined testing often provides the most complete clinical picture.
Why Choose Altus Lab for MTHFR Testing
Altus Lab has served patients since 2013, and every genetic and specialised test is conducted under the direct supervision of Dr. Alok Gupta, MD Pathology, Ex-PGIMER. This means your MTHFR result is not simply processed and printed; it is reviewed by a qualified pathologist who understands the clinical significance behind each variant combination.
In addition, our pan-India home collection network ensures that families in smaller towns and cities receive the same access to specialist-grade genetic testing as those in metro areas, without the added cost or inconvenience of travel.
What Happens After Your Results?
Once your report is ready, share it with your treating physician, geneticist, or paediatrician. If a mutation is identified, your doctor may recommend methylfolate supplementation instead of standard folic acid, along with monitoring of homocysteine levels over time. If no significant mutation is found, this result still provides valuable clarity, allowing your doctor to focus investigation on other potential causes.
The Altus Lab team remains available by phone or WhatsApp to help you understand your report and its implications, wherever you are located in India.
Book Your MTHFR Mutation Test — Anywhere in India
Booking is simple and available nationwide. Call or WhatsApp Altus Lab to schedule a home sample collection, and receive your digitally delivered report soon after processing. Since this is a one-time genetic test, the clarity it provides continues to inform your family’s health decisions well into the future.
Many specialists recommend combining this test with the FRAT test for a complete picture of folate metabolism.Doctors investigating unexplained developmental symptoms often recommend the Heavy Metal Screening test alongside genetic and folate testing.
For a broader metabolic picture, many families also book the OAT Test alongside MTHFR testing.
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Frequently Asked Questions
1. What is the MTHFR Mutation Test?
It is a genetic blood test that examines the C677T and A1298C variants of the MTHFR gene, which controls how efficiently your body converts folate into its active, usable form.
2. What is the MTHFR Mutation Test cost in India?
The test is priced at ₹6,500 at Altus Lab, offered at this same transparent price across India, including home sample collection.
3. Is this test relevant for autism?
Yes. The MTHFR gene affects folate metabolism and methylation, both of which are frequently studied in relation to autism spectrum disorder. It is often recommended alongside the FRAT test for a more complete picture.
4. Do I need to repeat this test in the future?
No. Since MTHFR variants are genetic and do not change over time, this test only needs to be performed once in your lifetime.
5. Is this test available outside Chandigarh?
Yes. Altus Lab offers home sample collection across India, so this genetic test is accessible regardless of your city.
6. How is the MTHFR test different from the FRAT test?
The FRAT test detects antibodies blocking folate receptors, primarily affecting folate transport to the brain. The MTHFR test examines a genetic variation affecting how folate is converted into its active form throughout the body. Both tests examine different mechanisms and are often recommended together.
7. Who reviews the MTHFR test report?
All genetic and specialised tests at Altus Lab, including the MTHFR Mutation Test, are supervised by Dr. Alok Gupta, MD Pathology, Ex-PGIMER, ensuring accurate and clinically reviewed reporting.
8. What happens if my MTHFR result shows a mutation?
Your doctor will review the specific variant identified and may recommend methylfolate supplementation along with monitoring of homocysteine levels, depending on your individual health history.