Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication
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).
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
New York DOH Approval Status
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 1 week; Refrigerated: 1 month; Frozen: Unacceptable
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.
Laboratory Developed Test (LDT)
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.
|Component Test Code*||Component Chart Name||LOINC|
|2012028||Breast/Ovarian Cancer Panel Interp||35474-6|
|2012029||Breast/Ovarian Cancer Panel Spcm||31208-2|
- 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