2012026
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Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication

BOCAPAN
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

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.

To compare this test to other hereditary cancer panels, refer to 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)

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
New York State Clients: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing / Sequencing / Multiplex Ligation-Dependent Probe Amplification (MLPA)

Performed

Varies

Reported

14-21 days

Reference Interval

Refer to 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 ; 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.
***Deletions/duplications in exons 12-15 may not be distinguishable from the PMS2CL pseudogene and may be reported as inconclusive.

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
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