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
- Reference range
- n/a
- Units
- n/a
- Synonyms
- MTHFR 677 MTHFR 665C>T Homocysteinemia
- Testing site
- Synnovis : Genomics : St Thomas' Hospital
- Laboratory
- Molecular Haemostasis
- Sample type and volume required
- Edta
- Call in advance
- no
- Storage and transport
- transport at ambient temperature
- Turnaround time
- 14 days
- Contacts
Molecular Haemostasis Laboratory at St Thomas’ Hospital
Phone: 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