Gilbert syndrome (genetic testing)

National Genomic Test Directory reference: R176 Gilbert syndrome

May be requested by specialists in: Clinical Genetics, Hepatology. _{(Source: National Genomic Test Directory. Testing Criteria for Rare and Inherited Disease, v7 July 2024)}

Alternative names, keywords

UGT1A1 genetics, TA_5/6/7/8 repeat.

Samples required

2x EDTA blood (purple cap/ yellow cap ring, 4 mL tube). Smaller tubes are available for paediatric samples.

5 - 10 mL whole blood required. 1-2 mL is acceptable for paediatric cases.

Tested by South East Genomic Laboratory Hub. Specimen will not be accepted by referral lab unless correctly labelled and accompanied by a fully completed request form. Please download a copy of the correct form here.

If you are sending an electronic request form direct to one of the genetics provider labs, please note a paper copy is still required with the sample so that handling laboratories can process it correctly.

All genetic testing requires consent. It is the responsibility of the referring clinician to obtain appropriate consent from the patient for genetic testing. This should be saved in local patient records and does not need to be sent with the request form. The SE-GLH Record of Discussion form can be downloaded alongside the relevant request form.

Test indications

Indicated to confirm Gilbert Syndrome if all of the following are present:

• Normal LFT apart from bilirubin increase
• Normal gamma GT
• Normal FBC - no evidence of haemolysis
• No bilirubinuria on routine dip stick testing
• No conjugated bilirubin present in serum (may be unhelpful if serum total bilirubin not much increased)

For full eligibility criteria see National Genomic Test Directory.

Reference range

See report. Please note results are returned direct to requesting clinician and not via laboratory.

Turnaround time

See referral laboratory's information.

Enquiries

Biochemistry (Referrals)