Clinical Report: Evaluating the Clinical Effectiveness of a Cholestasis Gene Panel
Overview
Revise to specify the diagnostic yield as 6.8% for definitive diagnoses and 2.2% for potential diagnoses.
Background
Cholestasis presents diagnostic challenges due to its diverse genetic and environmental causes. Genetic factors contribute significantly to cholestasis, with early diagnosis being crucial for effective management. Next-generation sequencing (NGS) has emerged as a valuable tool in identifying genetic causes, enhancing diagnostic accuracy and informing treatment strategies.
Data Highlights
Parameter
Value
Total Samples Analyzed
10,894
Patients < 1 Year Old
51.1%
Patients ≥ 18 Years Old
9.2%
Diagnostic Yield (Definitive)
6.8%
Diagnostic Yield (Potential)
2.2%
Key Findings
2917 patients had one or more pathogenic or likely pathogenic variants.
Definitive diagnoses were most common in genes JAG1, SERPINA1, ABCC2, ABCB11, CFTR, POLG, and NOTCH2.
Potential diagnoses frequently involved ABCC2, ABCB4, ABCB11, CFTR, and PKHD1.
Monoallelic variants were common in SERPINA1, CFTR, DHCR7, ABCB4, and PKHD1.
The diagnostic yield was significantly higher in infants compared to older patients.
Clinical Implications
The findings highlight the value of cholestasis gene panels in diagnosing genetic causes of cholestasis, particularly in infants. Clinicians should consider genetic testing early in cases of unexplained cholestasis to facilitate timely interventions and improve patient outcomes.
Conclusion
The study reinforces the clinical utility of cholestasis gene panels in diagnosing complex genetic conditions. Early genetic diagnosis can lead to better management strategies and improved patient care.
