Hereditary Breast and Gynecological Cancers Panel, Sequencing and Deletion/Duplication
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.
Massively Parallel Sequencing/Sequencing/Multiplex Ligation-dependent Probe Amplification
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Ambient: 72 hours; Refrigerated: 1 week; 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; 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.
|Component Test Code*||Component Chart Name||LOINC|
|2012028||Breast/Ovarian Cancer Panel Interp||35474-6|
|2012029||Breast/Ovarian Cancer Panel Spcm||31208-2|
- 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