ExomeDx™ (Whole Exome Sequencing) – Proband
Use
ExomeDx™ standard exome sequencing targets the protein‑coding regions (~20,000 genes) most commonly associated with genetic disease and is recommended as a first‑line test for individuals with unexplained developmental delay, epilepsy, congenital anomalies, or multisystem involvement. It provides enhanced diagnostic yield compared to gene panels and chromosomal microarrays by detecting SNVs, indels, splice‑site variants, small intronic variants near exons, exon‑level copy‑number variants, and—with add‑on—mitochondrial SNVs and deletions (ExomeDx™ + mito).
Special Instructions
Available for proband (single individual), duo, or trio testing; turnaround time as soon as 2 weeks; mitochondrial genome sequencing (with deletion testing) may be added (ExomeDx™ + mito). Ordering requires submission of completed provider‑ and patient/guardian‑signed requisition form, relevant clinical notes (within 2 weeks of sample receipt) unless the test is an urgent Xpress version.
Limitations
Standard turnaround may vary by case complexity and laboratory workload; add‑on testing (e.g., mitochondrial genome) is reported separately; trio or duo submission improves interpretation accuracy but only proband is required for this version.
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