Gilberts Syndrome Testing
- Description
- 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 bilirubin (>20 µmol/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.
- Clinical details
- Factors affecting results or interpretation: Presence of heparin anticoagulant will inhibit PCR applications. Clotted samples are unsuitable for DNA analysis.
- Testing site
- Synnovis : Genomics : King's College Hospital
- Sample type and volume required
- Volume of blood anticoagulated with EDTA: Adult and children 4 ml, Infants (0-2 years) 1 ml Clotted samples are unsuitable for DNA analysis. Blood Samples in in correct anticoagulant tubes may be rejected. We accept DNA samples. Please provide at least 1-5µg of purified DNA.
- 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
- 10 working days
- 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