Hereditary Breast Cancer Guidelines-Based Panel, Sequencing and Deletion/Duplication

Also known as: BCGUIDENGS

Clinical Use

Use

This test is designed for germline analysis of moderate and high lifetime risk hereditary breast cancer genes, including BRCA1 and BRCA2. It is intended for individuals with a personal or family history of hereditary breast cancer or other related cancers, providing valuable information for risk assessment and management. Testing minors for adult-onset conditions is not recommended, as this requires prior approval. The test includes analysis of several genes associated with an increased risk of breast cancer, facilitating appropriate screening and risk-reducing options in clinical care.

Special Instructions

Not provided.

Limitations

A negative result does not exclude a heritable form of breast cancer due to limitations in detecting variants only within the coding regions and intron-exon boundaries of the targeted genes. Certain exons are not covered by sequencing and/or deletion/duplication analysis. The methodology may not detect deep intronic or regulatory region variants, low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, or mitochondrial DNA variants. Single exon deletions may not be reliably detected.

Test Details