Which findings are diagnostic of Gilbert syndrome?

Updated: May 21, 2019
  • Author: Hisham Nazer, MBBCh, FRCP, DTM&H; Chief Editor: BS Anand, MD  more...
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Answer

Additional diagnostic tests are rarely required, because a diagnosis of Gilbert syndrome can generally be made on the basis of the following findings:

  • Unconjugated hyperbilirubinemia noted on several occasions

  • Normal results from the CBC, reticulocyte count, and blood smear

  • Normal liver function test (LFT) results

  • An absence of other disease processes

Nevertheless, certain specialized tests (including some that are of historical interest, as well as the newer molecular genetic techniques) are occasionally performed to confirm a diagnosis of Gilbert syndrome. These tests are described below to introduce the clinician to the broad diagnostic armamentarium available for diagnosing Gilbert syndrome. Recourse to these specialized tests should be rare and is usually difficult to justify in clinical practice, given that the diagnosis of Gilbert syndrome is generally straightforward.


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