Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication
Also known as: BOCAPAN
Use
This test is recommended to confirm a hereditary cause of breast and/or gynecological cancer(s) in individuals with a complex personal or family history of breast, ovarian, or endometrial cancer. It evaluates multiple genes implicated in hereditary breast, ovarian, and endometrial cancers, providing insights into genetic predispositions characterized by early-onset cancer (before age 50) and multiple, multifocal, and/or related cancers in an individual or family members.
Special Instructions
Not provided.
Limitations
This test detects variants only within the coding regions and the intron-exon boundaries of the targeted genes. Limitations include the inability to detect low-level mosaic or somatic variants, regulatory region variants, deep intronic variants, and precise breakpoints for large deletions or duplications. Single exon deletions have reduced sensitivity and some exons may not be distinguishable from pseudogenes.
Methodology
NGS
Biomarkers
LOINC Codes
- 31208-2 - Specimen source
- 35474-6 - Gene XXX Mut Anl Bld/T
Result Turnaround Time
14-21 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). New York State Clients: Lavender (EDTA)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant