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).
- Patient Preparation
- Collect
- Lavender (EDTA) or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Refrigerated.
- Unacceptable Conditions
- Remarks
- Stability
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
* 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