While the underlying technology sequences the whole genome, analyzed targets include exons +/-20bp of flanking region. Genomic DNA obtained from the submitted sample is prepared for sequencing using a PCR-free method and sequences the entire genome. Invitae's exome analysis utilizes advanced next-generation sequencing technology. Rather than limiting analyses to one or several genes, exome sequencing can evaluate almost all protein-coding genes in the human genome (>18,000 genes in a single assay) and detect single nucleotide variants, small insertions and deletions and intragenic copy number variants. Learn more Search for a specific gene or panel test-Invitae test catalogĮxome sequencing is typically ordered when a patient presents with complex symptoms that have a suspected genetic etiology or when the patient has undergone other forms of testing with no informative results. Importantly, we strive for 50x coverage at any given position to detect a genetic variant. Invitae’s next-generation sequencing panels generate an average depth of coverage of 350x, meaning that 350 sequence reads are available, on average, at any DNA nucleotide position in the reportable range. For some genes ( see test catalog), analysis may extend to the promoter region, include additional intronic variants, or be limited to targeted variants or exons. Deletion/duplication analysis detects intragenic deletions and duplications at single-exon resolution. If clinically indicated, a single gene or a small subset of genes from any of the panels can also be analyzed in isolation with the same level of coverage and quality.įull-gene sequencing generally covers clinically important regions of each gene including coding exons, 10 to 20 base pairs of intronic sequence on either side of the coding exons, and select noncoding variants. Invitae's multi-gene panel testing includes simultaneous full-gene sequencing and deletion/duplication analysis for most genes using next-generation sequencing technology. Most recently, this approach has been shown to provide comprehensive genetic information to help inform care for cancer patients diagnosed with a variety of tumor types. It not only reduces the cost of genetic testing, when compared with sequential testing of single genes, but also shortens the diagnostic journey for many patients. Multi-gene panel testing is increasingly recognized for its utility in a variety of clinical scenarios. Download white paper-Confirmation for clinical genetic testing.Watch webinar-Challenging variant types detected by next-generation sequencing and their contribution to monogenic disease.Read blog post-How Invitae detects challenging genotypes.We have also developed bioinformatic tools specialized in detecting specific types of challenging variants.įor the small subset of clinically significant findings that do not meet our stringent quality metrics for next-generation sequencing, orthogonal methods such as PacBio sequencing, Sanger sequencing, array comparative genomic hybridization (aCGH), and multiplex ligation-dependent probe amplification (MLPA) are used to confirm our results. Invitae has addressed these challenges through extensive laboratory research to improve all of our molecular methods. Genetic changes such as large insertions/deletions, small copy number variants, variations in repetitive regions, and mosaicism can be particularly challenging to detect by standard next-generation sequencing due to limitations in assay chemistry, sample-to-sample variability, or bioinformatic processes. See the FAQs below for more details about the technology Invitae uses for multi-gene panels, exome sequencing, and supplementary RNA analysis. These molecular assays-almost exclusively based on next-generation sequencing-report sequence changes and deletion/duplication events in coding exons, introns, splice sites, and other regions known to potentially harbor pathogenic variants. We also offer supplementary RNA analysis for specific oncology panels. Invitae’s clinical diagnostic laboratory, which is accredited by the College of American Pathologists (CAP) and certified by the Clinical Laboratory Improvement Amendments (CLIA), offers multi-gene panels and exome sequencing for diagnostic, reproductive health, and proactive health purposes. Clinical genetic testing requires carefully constructed methods to thoroughly interrogate genes of medical importance.
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