Hereditary Cancer Panel Comprehensive

Overview

Hereditary Cancer Panel Comprehensive (HCP Comprehensive)

Establish or confirm diagnosis

Guidance for management

Avoidance of invasive testing

Predictive risk information for patient and/or family members

This assay meets the sensitivity and specificity of combined Sanger sequencing and MLPA copy number analysis, >99%

Methodology: All coding exons and 20 bp of flanking non-coding sequence are enriched using an LHSC custom targeted hybridization protocol (Roche Nimblegen), followed by high throughput sequencing (Illumina). Sequence variants and copy number changes are assessed and interpreted using clinically validated algorithms and commercial software (SoftGenetics: Nextgene, Geneticist Assistant, Mutation Surveyor; and Alamut Visual). All exons have >300x mean read depth coverage, with a minimum 100x coverage at a single nucleotide resolution. This assay meets the sensitivity and specificity of combined Sanger sequencing and MLPA copy number analysis. Variants interpreted as either ACMG category 1, 2, or 3 (pathogenic, likely pathogenic, VUS; PMID: 25741868), if necessary, are confirmed using Sanger sequencing, MLPA, or other assays. ACMG category 4 and 5 variants (likely benign, benign) are not reported, but are available upon request. Variants detected in the 5’ UTR and 3’ UTR are not reported unless there is evidence suggesting pathogenicity. This assay has been validated at a level of sensitivity equivalent to the Sanger sequencing and standard copy number analysis (>99%; PMID: 27376475,28818680). 000 Please complete the requisition available on the website and ensure it is signed by the referring physician.

• Clinical Testing/Confirmation of Mutations Identified Previously
• Confirmation of research findings
• Custom Deletion/Duplication Testing
• Custom Sequence Analysis
• Custom mutation-specific/Carrier testing