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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.
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
New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing/Sequencing
Performed
Varies
Reported
10-15 days
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
CPT Codes
81432
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3005655 | BCGUIDE Specimen | 31208-2 |
| 3005657 | BCGUIDE Interp | 41103-3 |
Aliases
- Hereditary diffuse gastric cancer (HDGC)
- Li-Fraumeni syndrome (LFS)
- Lynch syndrome
- Neurofibromatosis type 1
- Cowden syndrome
- HBOC syndrome
- Peutz-Jegher syndrome (PJS)
- PTEN hamartoma tumor syndrome
