ExomeDx Rapid Trio

Casandra

Casandra Test Code GE35247Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID ExomeDx Rapid Trio — Test Code 896? (inferred from similar requisition PDF)

Clinical Use

Use

ExomeDx Rapid Trio is a rapid exome sequencing test designed for critically ill patients where a fast molecular diagnosis can significantly impact medical management. It includes simultaneous sequencing of the proband and both biological parents (trio) to enhance variant interpretation, including identification of de novo, compound heterozygous, homozygous, heterozygous, and X‑linked variants. It leverages gene–phenotype associations and multiple databases (gnomAD, HGMD, ClinVar, OMIM) and applies ACMG guidelines for variant interpretation (PMID: 25741868) to maximize diagnostic yield, which in published studies ranges from 25%–58% and is higher when parents are included.

Special Instructions

Proband and both biological parents must be submitted together along with clinical information. If not all required samples or information are available at submission, providers should notify GeneDx by email. A provisional report of pathogenic/likely pathogenic variants is provided under expedited turnaround; final written report follows within the stated timeframe.

Limitations

Clinical sensitivity depends on the proband’s phenotype and completeness of clinical/parental data. Rapid sequencing may require confirmatory testing; only reportable pathogenic or likely pathogenic variants are provided provisionally. Interpretation is limited to detectable variant types by exome sequencing and subject to limitations inherent to databases and variant calling pipelines.

Test Details