GenomeDx™ Trio (Test Code 931)

Casandra

Casandra Test Code GE60438Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID 931CPT Codes 81425, 81426

GenomeDx™ Trio (Test Code 931)

Clinical Use

Use

GenomeDx Trio testing analyzes the exome or genome of an affected child (proband) along with both biological parents to improve diagnostic accuracy and interpretation of variants of uncertain significance. Trio sequencing increases diagnostic yield and aids in assessing recurrence risk for genetic diseases, providing more definitive family-based analyses compared to proband-only testing.

Special Instructions

This panel requires submission of proband and both parental samples simultaneously, with associated clinical information, to initiate processing. Order forms must designate sample relationships. This test is best suited when a rapid or high-confidence molecular diagnosis is needed.

Limitations

Interpretation may still face challenges if parental samples are missing, degraded, or mislabeled, potentially increasing variants of uncertain significance. Turnaround time estimates begin when samples reach the lab. Approval may be required prior to sample submission.

Test Details

New York Approved

Methodology

NGS

Biomarkers

Simultaneous exome or genome sequencing of proband and both parents to identify pathogenic, likely pathogenic, and relevant variants across the nuclear genome.

Genome Sequencing (Trio)