MTHFR 1298 polymorphism

Description: 
Direct detection of MTHFR 1298A>C (c.1286A>C / p.Glu429Ala) polymorphism.
Clinical details: 
The MTHFR 1298 polymorphism is not generally associated with raised homocysteine levels, except in combination with MTHFR 677.
There is some association of homozygous MTHFR1298C or compound heterozygous MTHFR1298C and MTHFR677T with an increased risk of recurrent pregnancy loss, although this is not undisputed.
Related condition or disease: 
Possible association with recurrent pregnancy loss.
Possible role in Methotrexate toxicity (evidence is weak).
Reference range: 

n/a

Synonyms or keywords: 
MTHFR 1298 MTHFR 1286 Recurrent miscarriage
Units: 
n/a
Department: 
Haemostasis and Thrombosis Department
Location: 
St Thomas' Hospital
Sample type and Volume required: 
1 x 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: 14/03/2017