Casandra
Casandra Test Code GE43768Version 1 (DRAFT)
Performing Lab
Lab GeneDxLab Test ID N/A
Exome-to-Genome Reflex, Proband
Clinical Use
Order TestUse
This exome-to-genome reflex test provides comprehensive genomic analysis for a proband, beginning with exome sequencing and automatically reflexing to genome sequencing using the same sample if exome results are non-diagnostic. This approach maximizes diagnostic yield while avoiding additional sample collection and delay through stepped testing.
Special Instructions
Not provided.
Limitations
Exome sequencing may fail to detect variants in genomic regions not well covered, such as non-coding regions, structural variants, repeat expansions, or large copy number changes that are better captured by genome sequencing.
Test Details
Methodology
NGS (Targeted)
Biomarkers
Exome Sequencing and Reflex to Genome • Targeted
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
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