Custom Slice—Bardet‑Biedl Syndrome (2–150 genes)

Casandra

Casandra Test Code GE68123Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID N/A

Custom Slice—Bardet‑Biedl Syndrome (2–150 genes)

Clinical Use

Use

The Custom Slice test is designed for cases with a defined, oligogenic phenotype, such as Bardet‑Biedl syndrome, where a comprehensive clinical panel is unavailable or the condition involves a single gene. The approach captures whole‑exome sequence data but limits analysis strictly to the selected gene list provided by the provider, enabling focused interrogation without reporting unrelated secondary findings. Gene lists are reviewed by laboratory clinical staff and coverage metrics are provided prior to testing.

Special Instructions

Providers must submit the gene list via the online Slice Tool; the lab reviews and approves it within approximately 3 business days and issues a tracking number and coverage report. This must accompany the sample. Ordering requires completion of a standard test requisition form. Relevant clinical records must accompany the submission to support phenotype‑driven analysis.

Limitations

Since the test only analyzes the custom‐specified gene set, pathogenic variants outside that list—including ACMG secondary findings—are not reported. Trio analysis is not performed for 2‑150 gene tests (proband only). Results do not include separate reports for parents or relatives even if samples are submitted for interpretation assistance.

Test Details