Quick Facts
- Sample: Whole blood (purple top EDTA tube)
- Fasting: Not required
- Turn-around time: 12–21 business days. May take longer based on weather, holiday, or lab delay.
Benefits
- Understand your genetic methylation capacity – Discover how efficiently your body processes folate
- Guide personalized nutrition strategies – Optimize supplement choices based on your genetic profile
- Assess cardiovascular risk factors – Identify genetic predisposition to elevated homocysteine levels
- Support family planning decisions – Understand genetic risks for neural tube defects
- Convenient at-home testing – Direct-to-consumer
- Lifetime genetic insights – Results don't change, providing permanent health information
Who Is This Test For?
- Individuals experiencing unexplained fatigue or mood changes
- People with a family history of cardiovascular disease
- Those planning pregnancy or with a history of pregnancy complications
- Anyone seeking personalized nutrition and supplement guidance
- Individuals with elevated homocysteine levels needing genetic context
- Health-conscious consumers wanting comprehensive wellness insights
How It Works – Just 3 Steps
- Order online and receive your kit with pre-labeled FedEx shipping
- Schedule your blood draw at home or at a convenient lab location
- Get results in 12-21 business days in secure online portal
FAQ
What genetic variants does this test analyze? The test identifies the two most common MTHFR gene mutations: C677T and A1298C, which affect folate metabolism.
Will this test tell me if I need supplements? Results show your genetic capacity for methylation, helping guide personalized folate and B-vitamin supplement choices.
Do I need to stop medications before testing? No medication adjustments are needed since this tests your DNA, not metabolic markers.
How accurate are the results? The test uses PCR technology with 99.8% sensitivity and 99.9% specificity from a CLIA-certified laboratory.
Should I test other family members? Family members may benefit from testing since MTHFR variants are inherited genetic traits.
What's the difference between this and homocysteine testing? This genetic test shows your predisposition, while homocysteine testing shows current metabolic status.
More Details
What is the purpose of this test?
The MTHFR Genotyping test analyzes genetic variations in the methylenetetrahydrofolate reductase gene that affect how efficiently your body performs methylation processes. Methylation is crucial for folate metabolism, homocysteine conversion, DNA synthesis, detoxification, and neurotransmitter production. The test specifically identifies C677T and A1298C variants, which can reduce enzyme activity and potentially impact cardiovascular health, neurological function, and metabolic processes.
Who would benefit from this test?
This test is particularly valuable for individuals experiencing symptoms potentially related to methylation dysfunction, including unexplained fatigue, mood disorders, or cognitive changes. People with family history of cardiovascular disease, recurrent pregnancy loss, or elevated homocysteine levels can gain insights into genetic predispositions. Those planning pregnancies may benefit from understanding neural tube defect risks, while health-conscious consumers seeking personalized nutrition approaches can use results to optimize supplement protocols.
When should I order MTHFR Genotyping?
Consider testing if you're experiencing symptoms possibly related to methylation dysfunction, planning pregnancy with family history of neural tube defects, or seeking personalized nutrition guidance (PMC 2024). The test is also valuable when you have elevated homocysteine levels and want to understand genetic contributing factors. However, current clinical guidelines suggest limited utility for routine screening, so discuss with your healthcare provider to determine if testing aligns with your specific health goals.
How do I interpret the results?
Genotype: CC/AA (Normal)
- What it means: Wild-type, fully functional enzymes
- Typical action: Standard folate recommendations
Genotype: CT/AC (Heterozygous)
- What it means: 30–50% reduced enzyme activity
- Typical action: Consider methylfolate supplementation
Genotype: TT/CC (Homozygous)
- What it means: Up to 70% reduced enzyme activity
- Typical action: Methylfolate preferred, monitor homocysteine
Genotype: Compound heterozygous
- What it means: Intermediate to significant enzyme reduction
- Typical action: Personalized supplementation strategy
Approximately 25% of the global population carries the MTHFR 677C>T variant, with highest prevalence in Hispanic populations (PMC 2019).
Disclaimer: Reference ranges may vary by laboratory. Listed ranges are general guidelines and may differ from those used by the performing lab. Always consult your healthcare provider for interpretation.
Pre-test preparation
No fasting is required for MTHFR genotyping since it analyzes DNA rather than metabolic markers. You don't need to stop medications or supplements before testing. For optimal shipping logistics, schedule your blood draw Monday through Friday. Ensure you're well-hydrated for easier blood collection, and inform the phlebotomist of any bleeding disorders or medications that affect clotting.
How often should I get tested?
- Initial screening: Once in a lifetime
- Follow-up after interventions: Not needed (genetics don't change)
- Family members: Individual testing as appropriate
- Homocysteine monitoring: Every 6–12 months if variants are present
Why early detection matters
Understanding your MTHFR genotype enables proactive health management before complications develop. Homozygous C677T mutations are associated with 3.1-fold increased risk for premature cardiovascular disease (PubMed 1996). Early identification allows for targeted interventions including personalized supplementation, dietary modifications, and lifestyle changes that can optimize methylation pathways. For women of childbearing age, knowing variant status helps inform folate supplementation strategies to reduce neural tube defect risks.
Related tests you may consider
Homocysteine Blood Test measures homocysteine levels in the blood to screen for a vitamin B12, B6, or folic acid deficiency.
Micronutrients, B-Vitamin Blood Test Panel measures levels of B-vitamins to identify deficiencies that may cause health problems.
Cardiovascular Risk Profile, Serum - Doctor's Data Kit assesses standard and advanced biomarkers to aid in the early detection and risk factor modification of cardiovascular disease (CVD).
