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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.
4 mL CPD Blood (Preferred)
4 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:
For more information 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 15:36:59 07/03/2024