Molecular Genetic Testing
Hyperhomocysteinemia (Methylene-tetrahydrofolate-reductase - Deficiency, MTHFR)


Indication and Diagnostic Value

MTHFR deficiency is the most common genetically caused disorder of folic acid metabolism. About 12% of all individuals among the population carry the disease-associated MTHFR mutation in its homozygous form. The mutation leads to inhibition of the enzyme MTHFR, and consequently to an increase of plasma homocysteine. Elevated cysteine levels represent an independent risk factor for arteriosclerosis similarly to smoking or hypercholesterolemia. Independent studies show a correlation between enhanced plasma cysteine levels and decreased folic acid concentrations in homozygous MTHFR carriers. For these patients a substitution therapy involving folic acid, vitamine B12 and B6 is recommended. In particular, patients with disturbed kidney function may benefit from that therapy.
mutation (C677T) in the methylentetrahydrofolate reductase gene (MTHFR gene) leads to loss of enzymatic activity with subsequent elevation of homocysteine.

Samples and Test Method

IMMD blood stain test paper is required. By using PCR and restiction fragment analysis the test unambiguously identifies homo - and heterozygous G>T transitions at position 677 of the coding region of the MTHFR gene. The specificity of the diagnosis reaches almost 100%.

Turnaround time for this test is 10 days.

→ list of Molecular Genetic Tests offered by IMMD


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