Hereditary Cancer Panel - High Penetrance 16

Overview

Hereditary Cancer Panel - High Penetrance 16 (HCP-16)

Establish or confirm diagnosis

Guidance for management

Avoidance of invasive testing

Not provided

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 Complete and physician signed requisition required with pedigree and clear clinical diagnosis. Requisition available on lab website if required. Please draw 4-10ml EDTA whole blood and ship by overnight courier to the lab address (weekdays only)

• Clinical Testing/Confirmation of Mutations Identified Previously, comments
  Requires prior phone contact to arrange for test development
• Confirmation of research findings, comments
  Requires prior phone contact to arrange for test development
• Maternal cell contamination study (MCC), comments
  Requires prior phone contact to arrange for consult
• Custom mutation-specific/Carrier testing