Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication

2012026
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Example Reports
Negative
Positive

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Supplemental Resources

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Patient History for Hereditary Breast and Ovarian Cancer Syndrome (HBOC)

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Additional Technical Information

Ordering Recommendation

Recommended test to confirm a diagnosis of hereditary breast and/or ovarian cancer in individuals with a personal or family history of breast and/or ovarian cancer. When a relative has a previously identified pathogenic sequence variant, see Familial Mutation, Targeted Sequencing (2001961).

Mnemonic

BOCAPAN

Methodology

Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray

Performed

Varies

Reported

3-6 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 (EDTA) or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 1 week; Refrigerated: 1 month; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2*, DICER1, EPCAM****, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1**, PALB2, PMS2, PTEN, RAD51C, RAD51D, RECQL***, STK11, TP53
 
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
** Deletion/duplication detection is not available for this gene.
*** One or more exons are not covered by sequencing, and deletion/duplication detection is not available for this gene; see Additional Technical Information.
**** Deletion/duplication only; sequencing is not available for this gene.

Hotline History

N/A

CPT Codes

81432; 81433

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Components

Component Test Code* Component Chart Name LOINC
2012028 Breast/Ovarian Cancer Panel Interp 35474-6
2012029 Breast/Ovarian Cancer Panel Spcm 31208-2
* 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
  • EPCAM deletions only
  • HBOC syndrome
  • Hereditary Diffuse Gastric Cancer (HDGC)
  • Li-Fraumeni syndrome (LFS)
  • Lynch syndrome
  • MUTYH-Associated Polyposis (MAP)
  • Neurofibromatosis Type 1 (NF1)
  • Peutz-Jegher syndrome (PJS)
  • PTEN Hamaratoma Tumor syndrome
Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication