Test Background Mutations of the UGT1A1 gene cause problems with bilirubin metabolism, due to the reduced enzymatic activity of UGT1A1 causing increased levels of bilirubin (hyperbilirubinemia).
Clinical Indications The detection of UGT1A1 promoter mutation is performed for patients with suspected Gilbert’s syndrome, using PCR and gene-scanning.
Sample Required Blood or bone marrow in EDTA (lavender top)
Sample Volume 6 mL blood or 1-2 mL bone marrow
Turnaround Time 10 working days
Notes At times, it may be necessary to refer work to other laboratories or consultants. This requirement is assessed on a case-by-case basis. Referral centres are selected based on the EQA schemes in which they participate, any reported EQA exceptions, average turnaround times and accreditation status. There are occasions where a centre without accreditation status is used; this is because it is a national referral centre and, on this basis, is deemed expert in this field. When cases require a specialist second opinion, they are referred by our pathologist to another pathologist, in line with the West London Cancer Network guidelines.