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
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
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