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.
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.
Turnaround time: 
10 working days
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 - Molecular Diagnostics Laboratory
020 3299 1246 / 2265
kch-tr.pnd@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
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 15/01/2020