Suggested Custom Slice – Coloboma
Use
This test is a Custom Slice test focused on coloboma, enabling phenotype-driven, targeted analysis of a specified gene list using exome sequencing data. The analytic pipeline restricts reporting to the genes on that list and does not return secondary findings unless they are included in the custom list. It is designed for oligogenic phenotypes where a comprehensive panel is unavailable, or where only a single gene is of interest.
Special Instructions
Ordering requires submitting a gene list via the online Slice Tool for approval, which includes receiving a tracking number and percent coverage metrics. A requisition form tied to that approval must accompany the specimen. If a Slice Xpanded® test is used, trio samples may be included but analysis remains phenotype-driven. Custom Slice tests do not report ACMG secondary findings unless genes are on the custom list.
Limitations
Whole exome is captured, but analysis is limited only to the custom-specified genes. Secondary/incidental findings outside that list will not be reported. Family member reports are not issued separately, and coverage metrics may vary depending on gene list and capture.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided