GenomeXpress® - Trio - Rapid Genome Sequencing

Casandra

Casandra Test Code GE32764Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID TH78aCPT Codes 81425, 81426

GenomeXpress® - Trio - Rapid Genome Sequencing

Clinical Use

Use

This expedited nuclear genome sequencing test is intended to provide a rapid molecular diagnosis in situations where clinical management may be impacted. Results include reporting of pathogenic/likely pathogenic variants and variants of uncertain significance (VUS) associated with the patient’s phenotype, and may include ACMG secondary findings if the patient opts in. Preliminary reports may be issued within the rapid turnaround time, with final written reports including all clinically relevant variants for the nuclear genome. A separate mitochondrial genome report is issued concurrently if applicable. Samples from proband and biological parents must be submitted simultaneously to ensure expedited processing.

Special Instructions

Preliminary reports containing P/LP variants and VUS will be issued within the expedited turnaround time; final report may take longer if confirmation is needed. For Trio testing, samples from the proband and both biological parents must be submitted together, and clinical information must be provided at the time of submission. If required samples or information are missing at submission, providers should contact [email protected]. The GeneDx pink shipping bag with FedEx First Overnight shipping label must be used for ultraRapid sequencing to avoid delays.

Limitations

In rare circumstances where confirmation is required before reporting, preliminary reports cannot be issued and GeneDx clinical staff will contact the ordering provider with an updated expected report date. Turnaround times are estimates and may be extended in situations outside GeneDx’s control.

Test Details

Methodology

NGS

Biomarkers

Expedited nuclear genome sequencing for rapid diagnosis, including preliminary and final reporting of clinically relevant variants across the nuclear genome, and mitochondrial genome sequencing if applicable.