Invitae Exome, Proband-Only

Casandra

Casandra Test Code IN80001Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 80001

Invitae Exome, Proband-Only

Clinical Use

Use

This test is intended to identify gene/variant combinations that may aid in the diagnosis of patients with rare genetic disorders. Invitae Exome evaluates almost all protein-coding genes in the human genome (>18,000 genes in a single assay) and detects single nucleotide variants, small insertions and deletions, and intragenic copy number variants. Artificial intelligence (AI)-powered software weighs clinical and genetic information to identify the variants most relevant to each patient’s case. Routine case-level reanalysis is included in the cost of the test.

Special Instructions

Invitae will not report incidental findings unrelated to the proband’s reason for testing. Secondary findings will only be reported if Invitae’s Secondary Findings Add-on test is ordered. Additionally, parental samples as part of trio testing are recommended when available to increase the sensitivity of an exome.

Limitations

The test is not designed to detect or report copy number variants larger than a single gene, regions of homozygosity (ROH), mosaic/somatic events, or variants in regions with difficult sequence context. It may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or expansion repeat numbers. The assay does not detect variants in the mitochondrial genome.

Test Details

New York Approved

Methodology

NGS (WES)

Biomarkers

Invitae Exome evaluates almost all protein-coding genes (>18,000) and detects single nucleotide variants, insertions, deletions, and intragenic copy number variants. It includes deep sequencing and AI-powered variant analysis.