Hereditary Breast Cancer High-Risk Panel, Sequencing and Deletion/Duplication
Also known as: BCHR NGS
Use
This test is utilized for the germline analysis of genes associated with a high lifetime risk of hereditary breast cancer, including BRCA1 and BRCA2. It is intended for individuals with a personal or family history of hereditary breast or related cancers to provide information for risk management. Detection of pathogenic variants can guide preventive measures and inform about cancer predisposition.
Special Instructions
Testing minors for adult-onset conditions is not recommended and will not be performed without prior approval. A Hereditary Cancer Testing Patient History Form and Informed Consent for Genetic Testing are required for New York patients.
Limitations
A negative result does not exclude the presence of a hereditary form of breast cancer. Variants outside of coding regions and deep intronic variants will not be identified. Some exons are not covered by sequencing, and deletions/duplications may go undetected. The test may not detect low-level mosaic or somatic variants, complex rearrangements, or mitochondrial DNA variants. Precise breakpoints of large deletions or duplications are not determined.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 31208-2
- 50398-7
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |