Invitae Exome, Trio

Casandra

Casandra Test Code IN80003Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 80003

Clinical Use

Use

The Invitae Exome, Trio test is designed to identify gene and variant combinations that may support the diagnosis of patients with rare genetic disorders. This test evaluates almost all protein-coding genes in the human genome, detecting single nucleotide variants, small insertions, deletions, and intragenic copy number variants. The results help elucidate the genetic underpinnings of a patient's condition and include a routine case-level reanalysis to ensure variants most relevant to the patient's case are identified.

Special Instructions

Secondary findings are only reported if the Invitae's Secondary Findings Add-on test is ordered. The test is not designed to detect large copy number variants, regions of homozygosity, mosaic or somatic events, or variants in regions with difficult sequence context. The recommended specimen type for accuracy is whole blood due to possible contamination concerns with non-blood samples.

Limitations

The test does not detect or report structural rearrangements, large CNVs, regions of homozygosity, indels >50bp, mosaic/somatic events, or variants with high sequence complexity, such as those in pseudogenes or repetitive regions. In some instances, particularly small single-exon copy number events may not be analyzed due to limitations in sequence properties or data quality. The assay does not include non-human contaminants, and therefore, whole blood is recommended to avoid sample quality issues.

Test Details

New York Approved

Methodology

NGS (WES)

Biomarkers

Invitae Exome evaluates over 18,000 protein-coding genes in the human genome to identify genetic variants relevant to rare disorder diagnosis. It focuses on detecting single nucleotide variants, small insertions/deletions, and intragenic CNVs using AI-powered interpretation.