Our Tests

Gilbert Syndrome

Also known as: UGT1A1

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Purpose

Mutations in the UGT1A1 gene may slow the rate at which bilirubin is conjugated in the liver and cause Gilbert syndrome, a low grade elevation of unconjugated bilirubin in a patient’s serum. A specific mutation (described as the UGT1A1*28 allele) is a common cause of Gilbert syndrome in non-Asian populations. Gilbert syndrome due to the UGT1A1*28 allele is inherited in an autosomal recessive fashion.

The diagnosis of Gilbert syndrome can be helpful in avoiding the pursuit of other more serious causes of elevated bilirubin (hyperbilirubinaemia).

Clinical Utility

In an affected patient, the presence of two UGT1A1*28 alleles is required for a diagnosis of Gilbert syndrome.

Genes

UGT1A1

Test Method

Analysis of the UGT1A1 gene for *28, *36 and *37 allele variants.

Test Ordering

This test can be requested by any medical practitioner.

4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.

To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.

We also recommend that the patient or another adult check the labelling of request forms and sample tubes.

Price

$200

Medicare Rebate

This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.

Turnaround Time

10 working days.