MTHFD1 (B-Vitamin)

A gene variant involved in folate and one-carbon metabolism.

Last reviewedJune 16, 2026
Whole blood (EDTA) or buccal swab
sample type
~3 mL or a swab
blood needed
~14 to 28 days
results in app
Any time (genetics do not change)
best timing
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In short

MTHFD1 is a gene that codes for an enzyme with three jobs in one-carbon metabolism, the pathway that handles folate and B vitamins. It helps interconvert the folate forms the body uses to build DNA and to recycle homocysteine.

Because folate sits at the centre of this pathway, variants in MTHFD1 can subtly influence how efficiently the body uses B vitamins.

Vitamins & Minerals
Reviewed against DGKL reference practice.
Why it matters

Why test this?

Common MTHFD1 variants, such as G1958A (rs2236225), can change enzyme efficiency and have been studied in relation to folate status, homocysteine and pregnancy outcomes. Looking at this gene adds context to how your body manages folate alongside other one-carbon genes like MTHFR.

A variant here is a predisposition, not a diagnosis, and is most useful read with folate and homocysteine.

Reference ranges

What is a normal result?

Aniva reads your result against research-backed ranges, not just the lab's wide normal. The reference shown below is specific to this biomarker.

This test reports a genotype, not a numeric value. Results are given as the alleles you carry, commonly at rs2236225 (G1958A).

GenotypeGeneral effect
Common (wild type)Typical folate handling
One variant alleleSlightly altered efficiency
Two variant allelesMore noticeable shift in efficiency

Interpretation is general guidance. Genetics are a predisposition, not a diagnosis.

Ranges are guidance and vary by lab and assay, aligned with DGKL practice. Always read your result against your own lab's reference interval.
What you'll learn

What insights will this test give you?

  • Whether you carry a common MTHFD1 variant linked to folate cycling efficiency.
  • Context for your B vitamin and homocysteine results.
  • A genotype result, reported as alleles rather than a blood level.
What affects your level

What can affect this result?

What can skew the result

Genetics are stable and do not change over time. The result is a predisposition for folate handling, not a diagnosis. Actual folate status depends heavily on diet and supplementation.

Best interpreted with

Best read alongside homocysteine, folate and vitamin B12, and other one-carbon genes such as MTHFR, MTR and MTRR.

How testing works

How is this tested?

Sample
Whole blood (EDTA) or buccal swab
Blood needed
~3 mL or a swab
Method
Genotyping (PCR)
Best timing
Any time (genetics do not change)
FAQ

Common questions

On this page
Why testReference rangesWhat you'll learnWhat affects itHow testing worksSourcesFAQ
✦ Privately insured? German PKV usually reimburses.

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