MTHFR mutation screen
- Description
- 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.
- Related condition
- Reference range
n/a
- Units
- n/a
- Synonyms
- MTHFR Methyltetrahydrofolate reductase Homocystinuria Hyperhomocysteinemia
- 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