3005632
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Hereditary Breast Cancer High-Risk Panel, Sequencing and Deletion/Duplication

BCHR NGS
Example Reports
Negative
Positive

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Hereditary Cancer Testing Patient History Form

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Informed Consent for Genetic Testing (Required for NY Patients)

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Additional Technical Information

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.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA) or yellow (ACD solution)

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)
New York State Clients: 5 mL (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

Methodology

Massively Parallel Sequencing / Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

Refer to 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.

When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.

Hotline History

N/A

CPT Codes

81432

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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