GenomeDx™ Rapid – Duo
Use
Rapid genome sequencing for duo samples (typically child plus one parent or biological relative) to identify pathogenic or likely pathogenic variants across the nuclear genome, including SNVs, indels, structural variants, mitochondrial variants, and repeat expansions, for expedited molecular diagnosis of rare or undiagnosed conditions.
Special Instructions
Proband and biological relative sample(s) must be submitted together. Expedited testing requires approval per GeneDx rapid genome sequencing protocol. Refer to GeneDx rapid sequencing requisition form for ordering instructions, consent, and attestations.
Limitations
Turnaround time estimates may be extended due to factors outside GeneDx’s control (e.g., billing or clinical review delays). The test may not detect all variant types equally (e.g., low-level mosaicism, very complex structural rearrangements), and residual risk remains even with negative findings.
Methodology
NGS
Biomarkers
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Submit paired samples (proband and relative) concurrently. Prefer lavender-top tube whole blood; buccal swab now accepted for WGS patients.