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
Not provided.
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
No genes
Gene
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
Other tests from different labs that may be relevant