Invitae Hereditary Breast and Gyn Cancers Panel

Casandra

Casandra Test Code IN01201Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 01201

Invitae Hereditary Breast and Gyn Cancers Panel

Clinical Use

Use

The Invitae Hereditary Breast and Gyn Cancers Panel analyzes genes associated with predisposition to adult-onset breast, ovarian, uterine, fallopian tube, and peritoneal cancers. This extensive panel testing helps evaluate several genes for a single clinical indication, potentially confirming diagnoses, predicting disease prognosis, facilitating early detection, assisting in family planning, and informing genetic counseling. It also supports clinical trial enrollment and focuses on heritable germline mutations, not somatic mutations in tumor tissue.

Special Instructions

This test is designed for germline mutations and will not detect somatic mutations. It uses whole blood in a purple-top EDTA tube as the preferred specimen, with saliva, buccal swab, and gDNA as alternates. The test offers customization by allowing genes to be toggled on or off, and it is New York approved.

Limitations

The test achieves >99% analytical sensitivity and specificity for single nucleotide variants and small indels but may have limitations in detecting large indels, structural rearrangements, or complex variants. Analysis excludes changes in promoters or non-coding regions unless specified. de novo variants affecting phasing or mapping, and single-exon copy number changes, may not be detected under certain conditions or sequence properties. Rarely, non-constitutional DNA from treatments like bone marrow transplants may affect results.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

This panel uses next-generation sequencing to cover clinically relevant regions of genes associated with breast and gynecologic cancers, including coding exons and select non-coding regions. It evaluates for single nucleotide variants, insertions, deletions, and exon-level copy number changes.

Mutation (21 genes)