MTHFR mutation screen

Analysis of the MTHFR gene by PCR amplification and sequencing of the coding region and splice junctions.
Clinical details: 
Methylenetetrahydrofolate reductase, encoded by MTHFR, is involved in the convertion of homocysteine to methionine and deficiency can result in homocystinuria. Polymorphisms in the MTHFR gene have also been associated with an increased risk of neural tube defects.
Raised plasma homocysteine levels are associated with an increased risk of vascular damage, heart disease, thrombosis and stroke. Severe MTHFR deficiency may result in neurological problems such as developmental delay, microcephaly and seizures. Severe MTHFR deficiency is autosomal recessive but heterozygotes may develop hyperhomocysteinemia.
Homocystinuria has an incidence between 1:50,000 and 1:200,000 but may be the result of mutations in the CBS gene, and potentially other genes, as well as MTHFR mutations.
Reference range: 


Synonyms or keywords: 
MTHFR Methyltetrahydrofolate reductase Homocystinuria Hyperhomocysteinemia
Sample type and Volume required: 
1 x Edta
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: 14/03/2017