MTHFR 677C>T polymorphism

Direct detection of MTHFR 677C>T (c.665C>T / p.Ala222Val) polymorphism.
Clinical details: 
The MTHFR 677 polymorphism produces a more thermolabile form of the enzyme which, in certain situations, may result in elevated plasma homocysteine levels. It is a common polymorphism which is only relevant in the homozygous T/T form, which itself is found in ~10% of the 'normal caucasian population'. It is not generally considered a significant thrombotic risk factor but may explain mildly increased homocysteine levels. In combination with the MTHFR 1298 polymorphism it may be associated with an increased risk of recurrent pregnancy loss.
Reference range: 


Synonyms or keywords: 
MTHFR 677 MTHFR 665C>T Homocysteinemia
Sample type and Volume required: 
Call in advance: 
Turnaround time: 
14 days
Storage and transport: 
transport at ambient temperature
Molecular Haemostasis Laboratory at St Thomas'
020 7188 2798
Haemostasis and Thrombosis
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH

Laboratory opening times
Monday - Friday 09.00 - 17.00
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 07/08/2015