ExomeDx Proband

Casandra

Casandra Test Code GE11904Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID N/A

Clinical Use

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

Ordering ExomeDx Proband requires submission of genomic DNA; when indicated, duo or trio testing may be ordered separately. The test is categorized within GeneDx’s ExomeDx suite alongside ExomeDx + mito and ExomeDx Rapid. Consent forms allow selection regarding ACMG secondary findings and sample retention in New York. Sample collection kits and instructions are provided via the provider portal.

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.

Test Details