ExomeDx™ Duo

Casandra

Casandra Test Code GE16078Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID N/A

Clinical Use

Use

ExomeDx™ Duo is a standard clinical whole exome sequencing test conducted on a proband and one additional family member (“duo”), enabling improved variant interpretation by incorporating familial inheritance data. It is indicated for patients with suspected genetic conditions, including developmental delay, congenital anomalies, epilepsy, or multisystem involvement, where exome analysis may provide diagnostic insights beyond targeted panels.

Special Instructions

This test is available for proband, duo, or trio configurations. Ordering requires submission of a completed test order signed by the qualified healthcare provider and patient/guardian; for duo testing, relative consent and a family member specimen are also required. Clinical documentation including prior test results, consult notes, and pedigree/family history is encouraged; clinic notes within two weeks of sample receipt are required to proceed with testing.

Limitations

Turnaround times are estimates beginning when samples begin processing after billing and clinical review; actual timing may vary. The test relies on exonic and flanking regions; certain variant types or regions outside the exome (e.g., deep intronic, structural variants) may not be fully assessed. Interpretation depends on quality of submitted specimens and completeness of clinical information.

Test Details