Methylenetetrahydrofolate reductase - MTHFR gene - c.677C>T mutation
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MTHFR
Synonyms
- OMIM code : *607093 / #236250
- p.Ala222Val mutation
- Mutation of the methylenetetrahydrofolate reductase gene
Clinic significance
Methylene tetrahydrofolate reductase (MTHFR) is one of the enzymes involved in the metabolism of the sulfur-containing amino acid, homocysteine. A specific point mutation (C677T) in the MTHFR gene gives rise to a heat-sensitive enzyme with reduced activity. Patients with this deficiency present with homocysteinuria and high blood levels of this amino acid which, being atherogenic and thrombogenic, constitute a cardiovascular risk. Clinical investigations are still necessary to define the role of this MTHFR variant in thrombotic risk.
Prenalytics
- 5 mL
- Whole blood EDTA (only), do not use tubes containing beads.
- Ambient temperature
Further information
- Sample must be refrigerated if transport is > 48 hours
- According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
- Enclose the specific B12-INTGB request form: Molecular Genetics
Documents to download
Methodology
LAMP PCR
Turnaround time
9 days
Pathologist(s) in charge
Biomnis Lyon
Specialty
Genetics
Contact(s)
Dr Marc NOUCHY
Dr Laure RAYMOND
Dr Nicole COUPRIE
Dr Thibaut BENQUEY
Dr Laure RAYMOND
Dr Nicole COUPRIE
Dr Thibaut BENQUEY
E-mail(s)
Phone(s)
+334 72 80 23 30
+334 72 80 25 77
+334 72 80 10 04
+334.72.80.25.77
+334 72 80 25 77
+334 72 80 10 04
+334.72.80.25.77
