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

Casandra

Casandra Test Code AR56036Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3005654CPT Code 81432

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

Also known as: BCGUIDENGS

Clinical Use

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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