ExomeDx Proband
Use
ExomeDx Proband is a standard clinical exome sequencing test designed for patients with suspected genetic conditions, including developmental delay, congenital anomalies, epilepsy, or unexplained multisystem involvement. It targets protein‑coding regions (~20,000 genes) where most pathogenic variants occur, enabling detection of SNVs, indels, splice‑site variants, and small intronic variants, as well as exon‑level copy‑number variants. Trio or duo testing (not part of this proband‑only test) can enhance interpretive confidence. The test leverages GeneDx’s proprietary capture system, the Illumina sequencing platform, and CNV calling for comprehensive variant detection. Clinical relevance includes enabling diagnosis in patients with complex phenotypes where targeted panels or CMA may not suffice.
Special Instructions
Not provided.
Limitations
ExomeDx includes detection of sequence variants and exon‑level copy‑number variants, but may not reliably detect smaller deletions or duplications involving fewer than three coding exons. Mitochondrial variants are not analyzed unless combined with ExomeDx + mito. Detection of certain variant types (e.g., repeat expansions, deep intronic changes) may be outside the scope. Analysis is limited to the proband; additional familial samples are not included unless a separate duo or trio order is placed.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant