Custom Slice—Bardet‑Biedl Syndrome (2–150 genes)
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
Not provided.
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.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant