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.
"
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.
"
Department:
Location:
Sample type and Volume required:
"Volume of blood anticoagulated with EDTA:
Adult (16 years and above) 10-15 mls
Children (2-15 years) 5 mls
Infants (0-2 years) 2 mls
Presence of heparin anticoagulant will inhibit PCR applications.
Clotted samples are unsuitable for DNA analysis.
"
Adult (16 years and above) 10-15 mls
Children (2-15 years) 5 mls
Infants (0-2 years) 2 mls
Presence of heparin anticoagulant will inhibit PCR applications.
Clotted samples are unsuitable for DNA analysis.
"
Turnaround time:
4 - 6 weeks
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."
Time limit for extra tests:
5 years
Contacts:
Red Cell Centre - Protein Laboratory
020 3299 2455
kch-tr.redcelllab@nhs.net
c/o Central Specimen Reception
Blood Sciences Laboratory
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill
London SE5 9RS
Mon-Fri, 9.00am-5.30pm
Blood Sciences Laboratory
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill
London SE5 9RS
Mon-Fri, 9.00am-5.30pm
Laboratory:
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Last updated: 29/09/2022
