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BRCA 1 & BRCA 2 Sequencing and Deletion/Duplication. Breast and Ovarian Hereditary Cancer Panel

BRCA

The BRCA gene test is a blood test that uses DNA analysis to identify harmful changes (mutations) in either one of the two breast cancer susceptibility genes — BRCA1 and BRCA2.


Methodology: Next Generation Sequencing
Performed: Varies
Reported: 7-15 days
Specimen Required: Collect: Lavender (EDTA)  - 2.0 ml whole blood OR Buccal Swab

Specimen Preparation: For the Buccal Swab Collection Instruction see Attached File.

Storage/Transport Temperature: Send Original LAV Tube OR Buccal Swab. 
Maintain specimen at room temperature.

Causes for Rejection:  Frozen whole blood, serum, or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed specimen; incorrect anticoagulant

Comment: Patient Genetic History Form/Patient Consent Form is require. See Attached File.

Stability: Room Temperature: 72 hours, Refrigerated: 1 week


NOTE: * This test is not available for New York patients, please refer to test code L911 for specimen requirements.*


Performing Laboratory
Lincoln Diagnostics LLC

CPT Code(s): 81211, 81213
PDF Document BUCCAL SWAB COLLECTION.pdf
Additional Information



A diagnosis of Hereditary Breast and Ovarian Cancer Syndrome (HBOC) is considered when there are multiple cases of breast cancer and/or ovarian cancer on the same side of the family.

Which patients should be tested for BRCA1 and BRCA2 mutations?

  • Breast cancer diagnosed at age 50 or younger
  • Ovarian cancer at any age
  • Multiple primary breast cancers either in the same breast or opposite breasts
  • Both breast and ovarian cancer
  • Triple-negative breast cancer
  • Pancreatic cancer with breast or ovarian cancer in the same individual or on the same side of the family
  • Ashkenazi Jewish ancestry
  • Two or more relatives with breast cancer, one under age 50
  • Three or more relatives with breast cancer at any Age

References
https://www.ncbi.nlm.nih.gov/books/NBK1247/

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