Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults
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By
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Brett J. Hoskins
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Tiziano Pramparo
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Ethan Gough
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Amy Ponte
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Rana Dutta
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Wikrom Karnsakul
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May 18, 2026
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Clinical Scorecard: Evaluating the Clinical Effectiveness of a Developing Cholestasis Gene Panel in Over 10,000 Pediatric and Adult Cases
At a Glance
| Category | Detail |
|---|
| Condition | |
| Key Mechanisms | Genetic factors contributing to impaired bile formation or flow, including specific gene mutations. |
| Target Population | |
| Care Setting | |
Key Highlights
- Clarify the distinction between 'definitive' and 'potential' diagnoses.
Guideline-Based Recommendations
Diagnosis
Management
- Implement early diagnosis to facilitate timely interventions for cholestasis, including potential therapies based on genetic findings.
Monitoring & Follow-up
Risks
Patient & Prescribing Data
Children and adults with unexplained cholestasis or chronic liver disease.
Genetic testing can guide management strategies and inform potential therapeutic options.
Clinical Best Practices
- Incorporate strategies for managing variants of uncertain significance in clinical decision-making.
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