Preferred first-tier genetic test to diagnose a hereditary cancer syndrome related to breast and ovarian cancer, including hereditary breast and ovarian cancer syndrome (HBOC), if a known familial variant has NOT been previously identified. When a relative has been previously tested, see Familial Mutation, Targeted Sequencing (2001961).
- Patient Preparation
- Lavender (EDTA) or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Genes tested by Deletion/Duplication: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2 common mutations, EPCAM deletions only, MEN1,MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
|Component Test Code*||Component Chart Name||LOINC|
|2012028||Breast/Ovarian Cancer Panel Interp||35474-6|
|2012029||Breast/Ovarian Cancer Panel Spcm||31208-2|
- CHEK2 common mutations
- EPCAM deletions only