Suggested Custom Slice — Bone Marrow Failure Syndromes
Use
This custom Slice test enables tailored exome sequencing analysis limited to a provider-defined gene list relevant to bone marrow failure syndromes. It is appropriate when a comprehensive panel is unavailable but the clinical phenotype suggests oligogenic or single-gene disorders within this category. The test identifies only genes specified by the provider and does not include secondary findings unless those genes are on the custom list.
Special Instructions
Provider must submit a gene list using the online Custom Slice tool; gene list approval occurs within 3 business days. The approval email includes a tracking number that must accompany the sample. A reusable Custom Slice requisition form is provided for non-portal orders.
Limitations
The test analyzes exome data only for the provided gene list; secondary findings outside that list will not be reported. Performed on the proband only (no trio unless under Slice Xpanded). Diagnostic yield limited to selected genes.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided