G6PD genotyping
- Description
- G6PD genotyping
- Clinical details
- "Glucose-6-phosphate dehyrogenase (G6PD) deficiency is the most common human enzymopathy. It is involved in red cell metabolism and a deficiency in this enzyme renders the red cell susceptible to oxidant stress. There are more than 400 variants due to point mutations or deletions of the gene responsible for G6PD, resulting in a reduced activity compared with normal. Nevertheless G6PD deficiency is usually asymptomatic. However the main syndromes that may occur as a result of the deficiency are acute haemolytic anaemia in response to oxidant stress, drugs, fava beans or infections. Neonatal jaundice and rarely a congenital non-spherocytic haemolytic anaemia may result from different types of the enzyme deficiency. G6PD deficiency is mainly seen individuals from West Africa, the Mediterranean, the Middle East and South East Asia. The most common mutations identified are: Mediterranean 188(TCC;Ser > TTC; Phe) African 68(GTG;Val > ATG;Met) African 126(AAT;Asn > GAT;Asp) These mutations are detected by direct mutation analysis. "
- Testing site
- Synnovis : Blood Sciences : King's College Hospital
- Laboratory
- Red Cell Centre - Protein
- Special sample instructions
"Presence of heparin anticoagulant will inhibit PCR applications. Clotted samples are unsuitable for DNA analysis. Samples must be clearly labelled with the patients first name, surname, D.O.B, hospital number and the date the sample was taken. The details on the sample must correspond to the request form. Unlabelled samples will not be accepted."
- Storage and transport
- "Blood should be stored at 4°C where possible. Send at room temperature by first class post. If possible, please complete the request form attached and send as a hard copy (do not send electronically) with the sample. This will ensure all relevant information is available and will aid us in processing your test."
- Turnaround time
- 4 - 6 weeks
- Time limit for extra tests
- 5 years
- Contacts
Special Haematology Department St Thomas’ Hospital
Phone – 020 7188 8189
St Thomas’ Hospital
5th Floor – North Wing
Westminster Bridge Road
London SE1 7EHSpecial Haematology Department at Guy’s Hospital
Phone – 020 7188 3421
Guy’s Hospital
4th Floor – Southwark Wing
Great Maze Pond
London SE1 9RTRed Cell Centre – Protein Laboratory
Phone: 020 3299 2455
Email: kch-tr.redcelllab@nhs.net
Central Specimen Reception
Blood Sciences Laboratory
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill
London SE5 9RS