Invitae Exome, Proband-Only
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
Not provided.
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.
New York Approved
Methodology
NGS (WES)
Biomarkers
Result Turnaround Time
6-8 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant