Exome‑to‑Genome Reflex Trio
Use
This test enables trio-based genomic sequencing that reflexes from exome to genome analysis when exome does not yield a diagnostic result, thereby increasing diagnostic yield by offering comprehensive detection across coding and non‑coding regions. Trio (proband plus both parents) analysis improves variant classification and inheritance modeling.
Special Instructions
Reflex to genome occurs automatically using the same sample when exome testing is non‑diagnostic, reducing the need for additional ordering steps or sample collection.
Limitations
Limitations may include reduced coverage in non‑coding regions during exome phase, and standard turnaround time (approximately 2 weeks for exome/genome) may vary based on sample quality and lab capacity; additional limitations may include inability to detect certain structural or repeat expansions depending on analysis.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided