Hereditary Breast Cancer Guidelines-Based Panel, Sequencing and Deletion/Duplication
Ordering Recommendation
Germline analysis of moderate and high lifetime risk (>15%) hereditary breast cancer genes, including BRCA1 and BRCA2. For use in individuals with a personal or family history of hereditary breast cancer or other related cancers. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.
To compare this test to other hereditary cancer panels, refer to the Hereditary Cancer Panel Comparison table.
Mnemonic
Methodology
Massively Parallel Sequencing/Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)
Transport 3 mL whole blood. (Min: 3 mL)
Refrigerated
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
GENES TESTED: ATM; BARD1; BRCA1*; BRCA2; CDH1*; CHEK2*; NF1; PALB2; PTEN*; STK11; TP53
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
Hotline History
Hotline History
CPT Codes
81408; 81479; 81162; 81406; 81307; 81321; 81323; 81404; 81405; 81351
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3005655 | BCGUIDE Specimen | 31208-2 |
3005657 | BCGUIDE Interp | 41103-3 |
Aliases
- Cowden syndrome
- HBOC syndrome
- Hereditary diffuse gastric cancer (HDGC)
- Li-Fraumeni syndrome (LFS)
- Lynch syndrome
- Neurofibromatosis type 1
- Peutz-Jegher syndrome (PJS)
- PTEN hamartoma tumor syndrome