Which tests measure Methylenetetrahydrofolate Reductase Genotype?

Methylenetetrahydrofolate Reductase Genotype is measured in 1 test on BiomarkersLabs.com, including Baseline Nexus (MNT+LPP+MTHFR+Telomere).

Biomarker Reference · MTHFR

What does the Methylenetetrahydrofolate Reductase Genotype test measure?

Q: What is the reference range for Methylenetetrahydrofolate Reductase Genotype?

The standard reference range for Methylenetetrahydrofolate Reductase Genotype is Reported as C677T and A1298C genotypes (wild-type, heterozygous, or homozygous variant); not a quantitative measurement.. Reference ranges vary by laboratory and assay platform — interpret in context of the issuing laboratory's stated range.

Methylenetetrahydrofolate Reductase Genotype (MTHFR) is a clinical biomarker used in genetic-testing assessment. MTHFR is the enzyme that reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the methyl donor for homocysteine remethylation to methionine. It is measured in 1 laboratory test on BiomarkersLabs.com.

Reference Range: Reported as C677T and A1298C genotypes (wild-type, heterozygous, or homozygous variant); not a quantitative measurement.
Units: Genotype
Measured In: 1 test
Category: Genetic Testing

Functional medicine optimalNot applicable; result is a genotype. The presence of a variant prompts assessment of homocysteine and folate status and, where indicated, repletion with methylfolate rather than folic acid.

What is Methylenetetrahydrofolate Reductase Genotype?

MTHFR is the enzyme that reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the methyl donor for homocysteine remethylation to methionine. The C677T variant reduces enzyme thermostability and activity (homozygous ~70% reduction), particularly when folate status is suboptimal. The A1298C variant has a smaller effect on activity. The double heterozygous 677CT/1298AC genotype is also reported.

Why is Methylenetetrahydrofolate Reductase Genotype measured?

MTHFR genotyping is ordered when investigating unexplained hyperhomocysteinaemia, recurrent thrombosis, recurrent pregnancy loss, or as part of a personalised nutrition and methylation assessment. The clinical significance of isolated MTHFR variants without hyperhomocysteinaemia is contested; the common polymorphism is not by itself an indication for anticoagulation, and the relationship to disease is context-dependent.

Reference ranges

Standard reference: Reported as C677T and A1298C genotypes (wild-type, heterozygous, or homozygous variant); not a quantitative measurement.
Functional medicine optimal: Not applicable; result is a genotype. The presence of a variant prompts assessment of homocysteine and folate status and, where indicated, repletion with methylfolate rather than folic acid.
Units: Genotype

Reference ranges vary by laboratory and assay platform. Interpret in context of the issuing laboratory's stated range.

Tests that measure Methylenetetrahydrofolate Reductase Genotype

1 test on BiomarkersLabs.com include this biomarker.

BML-GEN-010Comprehensive

Baseline Nexus (MNT+LPP+MTHFR+Telomere)

Methylenetetrahydrofolate Reductase Genotype reference range in this test: Reported as C677T and A1298C genotypes (wild-type, heterozygous, or homozygous variant); not a quantitative measurement.

Related clinical conditions

Related Biomarkers

Frequently measured alongside

Micronutrient Testing (MNT) PanelMNT1 test Lipoprotein Particle ProfileLPP1 test Mean Telomere LengthTL2 tests Total Antioxidant FunctionTAF1 test Immunidex ScoreImmunidex1 test SpectrOx (Oxidative Stress Marker)SpectrOx1 test

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