ExomeDx Rapid Duo
Use
ExomeDx Rapid Duo is a rapid-turnaround whole exome sequencing option designed for clinically urgent cases where a molecular diagnosis can significantly influence medical management. It allows analysis of the proband and one additional parent (duo testing), optimizing variant interpretation especially for de novo or compound heterozygous findings and enhancing diagnostic yield in critically ill or time-sensitive patient contexts.
Special Instructions
Proband and one biological parent must submit samples together. A provisional result including pathogenic or likely pathogenic variants is issued quickly, followed by a full written report within the expedited TAT. Clients are notified of interim and final findings. Contact GeneDx if required samples or clinical information are missing.
Limitations
Clinical sensitivity depends on the phenotype; not all clinically relevant variants may be detected. The provisional report includes only variants definitively explaining phenotype; additional relevant variants may be included in the final report. Duo testing may miss variants only identifiable through trio context; comprehensive detection limited to exonic regions and may not cover non-coding variants or structural variation outside exome scope.
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