Cholestasis Gene Panel Results from 10,894 Clinical Tests

Aggregate data from a 77-gene cholestasis panel used between 2016 and 2022. Brett J. Hoskins authored this summary of results from more than 10,000 tests, with 51.1% of samples from patients less than 1 year old.

Use Cases

• Analyze diagnostic yield for genetic cholestasis based on definitive and potential diagnosis rates
• Study age distribution of genetic cholestasis cases based on patient age groups
• Identify common pathogenic variants based on genes like JAG1, SERPINA1, and ABCB11
• Evaluate clinical utility of next-generation sequencing panels for liver disease

Strengths

• Results from 10,894 clinical samples analyzed
• Data spans a 77-gene panel used from 2016 to 2022
• Includes age distribution: 51.1% patients less than 1 year old

Limitations

• Column-level documentation is absent; field semantics must be inferred after download
• Row count is unknown, which may limit suitability assessment
• Data may reflect temporal bias inherent to the specific clinical testing period

Provenance

Source

figshare

Collection Method

Aggregate analysis of clinical genetic testing results using custom capture libraries (SureSelect and PGxome®).

Time Range

2016-2022

Freshness

Last updated 2026-05-18 05:31:12