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MTHFR Mutation Analysis
Also known as : [Methylenetetrahydrofolate reductase]


DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Haematology


Specimen Collection

Note: All samples should be forwarded to LabPlus at room temperature within 24hours.


CPD4 mL CPD Blood (Preferred)
EDTA4 mL EDTA Blood
Turnaround Time: Within 2 weeks, 4 days
Diagnostic Use and Interpretation

*Test only available if requested by a Haematologist, Cardiologist or Maternal Fetal Specialist*

This test detects the presence of a common genetic variation (677 C->T) within the MTHFR gene. Results can be used to explain the presence of high plasma homocysteine levels and may also indicate an increased risk for venous and arterial thrombosis (although this is controversial).


Contact Information

To contact the Molecular Haematology team please call:

Auckland City Hospital   (09) 307 4949
Lablink   ext 22000
Prof. Peter Browett (Haematologist)     ext 9090-86281
Nikhil Ghallayan (Section Leader)   ext 22006
Molecular Haematology Lab   ext 22005

For more inforamtion about the Molecular Haematology service at LabPLUS:

Molecular Haematology information page




Information on MTHFR Mutation:

A common genetic variation (677 C->T) within the methylenetetrahydrofolate reductase gene (MTHFR) results in a thermolabile phenotype, decreased enzyme activity and mild hyperhomocysteinaemia.  This polymorphism has been reported to be associated with both venous and arterial thrombosis, although the evidence is still debatable. The prevalence of the homozygous (TT) form ranges from 8-16% in the general population.  

In general it is recommended that homocysterine levels are measured rather than MTHFR gene testing as this will reflect both the genetic and environmental factors influencing the level.


Last updated at 11:48:27 18/03/2021