Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults - Takeaways - MDSpire

Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults

  • By

  • Brett J. Hoskins

  • Tiziano Pramparo

  • Ethan Gough

  • Amy Ponte

  • Rana Dutta

  • Wikrom Karnsakul

  • May 18, 2026

  • 0 min

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  • 1

    The study analyzed over 10,000 samples using a 77-gene cholestasis panel to identify genetic causes of cholestasis in pediatric and adult patients.

  • 2

    A diagnostic yield of 6.8% for definitive diagnoses and 2.2% for potential diagnoses was observed, highlighting the panel's clinical utility.

  • 3

    Definitive diagnoses were most frequently associated with variants in genes such as JAG1, SERPINA1, and ABCC2.

  • 4

    The study emphasizes the importance of early genetic diagnosis in infants, which can lead to timely interventions and improved management.

  • 5

    Next-generation sequencing has enhanced the ability to diagnose complex genetic cholestasis, despite challenges with variant classification.

Original Source(s)

Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults

  • by Brett J. Hoskins, Tiziano Pramparo, Ethan Gough, Amy Ponte, Rana Dutta, Wikrom Karnsakul

  • May 18, 2026

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