MTHFR 677C>T polymorphism

Description: 
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.
Related condition or disease: 
Increased plasma homocysteine levels.
Possible increased CAD risk.
Possible increased risk, in combination with nutritional deficiency, of neural tube defects .
Possible role in pregnancy complications.
Reference range: 

n/a

Synonyms or keywords: 
MTHFR 677 MTHFR 665C>T Homocysteinemia
Units: 
n/a
Department: 
Haemostasis and Thrombosis Department
Location: 
St Thomas' Hospital
Sample type and Volume required: 
Edta
Call in advance: 
no
Turnaround time: 
14 days
Criteria for acceptance / rejections of sample
Storage and transport: 
transport at ambient temperature
Contacts:
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.
Laboratory: 
Molecular Haemostasis Laboratory at St Thomas'

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Last updated: 07/08/2015