Ordering Recommendation

Germline analysis of high lifetime risk (>40%) hereditary breast cancer genes, including BRCA1 and BRCA2. For use in individuals with a personal or family history of hereditary breast 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, see the Hereditary Cancer Panel Comparison table.

Mnemonic

BCHR NGS

Methodology

Massively Parallel Sequencing/Sequencing

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

GENES TESTED: BRCA1*; BRCA2; CDH1*; PALB2; PTEN*; 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

N/A

CPT Codes

81162; 81406; 81307; 81321; 81323; 81351; 81479

Components

Component Test Code* Component Chart Name LOINC
3005633 BCHR Specimen 31208-2
3005635 BCHR Interp 50398-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Cowden syndrome
  • HBOC syndrome
  • Hereditary diffuse gastric cancer (HDGC)
  • Li-Fraumeni syndrome
  • PTEN hamartoma tumor syndrome
Hereditary Breast Cancer High-Risk Panel, Sequencing and Deletion/Duplication