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: 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: 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

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