Gilberts Syndrome Testing
Haematology Overview / Directory
Purpose of the test
Gilbert's syndrome is a benign form of unconjugated hyperbilirubinaemia. The majority of the cases are attributed to a polymorphic variant (TA repeats) in the promoter of the UGT1A1 gene in which 7 copies (TA)7 exist instead of the usual six. The (TA)7 variant is associated with increased bilirubin levels in otherwise healthy individuals, who are at risk of developing gallstones at an early age. Gilbert's syndrome is found in individuals with the 7/7 genotype, which can impact on a patient's health if inherited in combination with disorders of high red cell turnover, such as sickle cell disease and thalassaemia. Individuals with an unexplained raised bilirubun (>20 mg/l in the serum) would benefit from the investigation of Gilbert's syndrome.
The size of the TA dinucleotide repeats in the promoter of the UGT1A1 gene is assessed by a high resolution genotyping assay.
Sample Requirements
Volume of blood anticoagulated with EDTA:
Adult (16 years and above) 5 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.
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.
PDF Request Form
Download Gilberts Syndrome Testing Request Form
Turnaround Time
2 weeks
Time Limit for Extra Tests
5 years
Factors affecting results or interpretation
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.
Contacts
Professor Thein
T: 020 3299 1682
Chris Lambert
T: 020 3299 4337
Laboratory
T: 020 3299 9000 ext 2265
