Invitae Exome, Duo

Casandra

Casandra Test Code IN80002Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 80002

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. The test does not report incidental findings unrelated to the proband’s reason for testing, and secondary findings will only be reported with the Secondary Findings Add-on.

Special Instructions

Routine case-level reanalysis is included in the cost of the test. Parental samples as part of trio testing are recommended to increase sensitivity. Contact Client Services with any questions. Learn more about specimen requirements and request a specimen collection kit if necessary.

Limitations

The test is not designed to detect structural rearrangements (e.g., inversions, translocations), copy number variants larger than a single gene, regions of homozygosity, indels >50bp, mosaic/somatic events, or variants in regions with difficult sequence context, including high homology, pseudogenes, segmental duplications, and repetitive regions. Mitochondrial genome variants are not detected. Non-human contamination can impact sample quality, particularly in Saliva and Buccal specimens.

Test Details

New York Approved

Methodology

NGS (WES)

Biomarkers

The Invitae Exome evaluates almost all protein-coding genes, detecting single nucleotide variants, small insertions and deletions, and intragenic CNVs. It achieves >99% sensitivity and specificity for SNVs, indels, and CNVs.

WES Sequencing • WES