MTHFR- stands for Methylenetetrahydrofolate Reductase (the enzyme is in a mutated form when talking about it in these specific cases).

Not that you`ll ever really need to remember that.

Please visit the America's Pharmacist Website for an easy to understand overview and information on MTHFR.

Please visit for more detailed information.

The above websites will provide you with answers to most of your questions about MTHFR.

Testing For MTHFR

Also known as: MTHFR DNA testing

Formal name: Methylenetetrahydrofolate Reductase Mutations, C677T and A1298C

Related tests: Homocysteine, Factor V Leiden Mutation and PT 20210 Mutation, Vitamin B12 & Folate, Cardiac Risk Assessment, Methotrexate

MTHFR Disorder

Most serious mutation to less serious

C677T/C677T - Homozygous. Genetic counseling is recommended.

A1298C/A1298C - Homozygous. Genetic counseling is recommended.

C677T/A1298C- Compound heterozygous

C677T- Heterozygous

A1298C- Heterozygous

Immunocompromised individuals are at increased risk for adverse effects.

Last Updated- April 2019

Lucy Barnes