Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication

2012026
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Additional Technical Information

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Patient History Form for Hereditary Breast and Gynecological Cancer

Ordering Recommendation

Recommended test to confirm a hereditary cause of breast and/or gynecological cancer(s) in individuals with a complex personal or family history of breast, ovarian, or endometrial cancer. 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.

Mnemonic

BOCAPAN

Methodology

Massively Parallel Sequencing/Sequencing/Multiplex Ligation-dependent Probe Amplification

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 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; DNA.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; 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; MSH2; MSH6; NBN; NF1; PALB2; PMS2; PTEN*; RAD51C; RAD51D; RECQL*; SMARCA4; STK11; TP53

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
**Deletion/duplication analysis of EPCAM (NM_002354) exon 9 only, sequencing is not available for this gene.

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
08/15/2022
X
X
X
X
X
X
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

  • Coffin-Siris syndrome
  • Cowden syndrome
  • HBOC syndrome
  • Hereditary diffuse gastric cancer (HDGC)
  • Li-Fraumeni syndrome (LFS)
  • Lynch syndrome
  • Neurofibromatosis type 1
  • Peutz-Jegher syndrome (PJS)
  • PTEN hamaratoma tumor syndrome
  • Rhabdoid tumor predisposition syndrome
Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication