Eurofins Biomnis code

MTHFR

Synonyms

• Mutation of the methylenetetrahydrofolate reductase gene
• OMIM code : *607093 / #236250
• p.Ala222Val mutation

Specialty

Genetics

Clinical 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.

Preanalytics

• 5 mL :
• Whole blood EDTA (only), do not use tubes containing beads.
•   Ambient temperature

• A tube specifically for this analysis : No

Further information

According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
Sample must be refrigerated if transport is > 48 hours
Enclose the specific B12-INTGB request form: Molecular Genetics

Documents to download

• Specific Request Form (B12-INTGB)
• [To be translated]

Methodology

LAMP PCR

Turnaround time

9 days