Test Database

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
Possible association with recurrent pregnancy loss. Possible role in Methotrexate toxicity (evidence is weak).
Reference range

n/a

Units
n/a
Synonyms
MTHFR 1298 MTHFR 1286 Recurrent miscarriage
Testing site
Synnovis : Genomics : St Thomas' Hospital
Laboratory
Molecular Haemostasis
Sample type and volume required
1 x 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

Last updated:

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