Exome-to-Genome Reflex, Proband
Use
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
Automatically reflex to genome using the same sample if exome does not yield diagnostic findings; no additional ordering steps or sample requirements are needed.
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.
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