Test Code BRTP Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies
Ordering Guidance
This test is for patients diagnosed with cancer for whom results may impact treatment. A rapid turnaround time supports surgical and management decision making. For patients with cancer who do not need rapid results, order BRGYP / Hereditary Breast/Gynecologic Cancer Panel, Varies or COMCP / Common Hereditary Cancer Panel, Varies, depending on the patient’s personal and family history.
This test is not appropriate for patients who do not have cancer. If testing is needed based on a previous diagnosis of cancer or family history of cancer, order either BRGYP / Hereditary Breast/Gynecologic Cancer Panel, Varies or COMCP / Hereditary Common Cancer Panel, Varies, depending on the patient’s personal and family history.
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Testing minors for adult-onset predisposition syndromes is discouraged by the American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the National Society of Genetic Counselors.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information Sheet (T519)
Useful For
Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making
Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene alterations (eg, BRCA1, BRCA2) in selected tumor types
Evaluating patients with breast cancer who have a personal history suggestive of a hereditary breast or gynecological cancer syndrome
Identifying genetic variants associated with increased risk for breast cancer, allowing for predictive testing and appropriate screening of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 11 genes associated with hereditary breast cancer: ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN (including promoter), RAD51C, RAD51D, STK11, and TP53. See Targeted Genes and Methodology Details for Rapid Hereditary Breast Cancer Treatment Decision Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for hereditary breast cancer.
Disease States
- Breast cancer
Testing Algorithm
For more information see Breast, Gynecological and Prostate Cancer Testing Algorithm
Special Instructions
- Molecular Genetics: Inherited Cancer Syndromes Patient Information
- Informed Consent for Genetic Testing
- Informed Consent for Genetic Testing (Spanish)
- Breast, Gynecological and Prostate Cancer Testing Algorithm
- Targeted Genes and Methodology Details for Rapid Hereditary Breast Cancer Treatment Decision Panel
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS)Â followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Rapid Hereditary Breast Cancer TestSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Breast cancers occur in about 12% of the general population.(1) In some cases, breast cancer may be attributed to a hereditary cancer syndrome.(2-5) Evaluation of the genes on this panel may be useful for patients with breast cancer to determine surgical and management decision making. Rapid turnaround time testing allows for informative results to be returned to patients and providers prior to surgery or initiation of other treatment.
Hereditary breast and ovarian cancer syndrome (HBOC), caused by disease-causing variants in the BRCA1 and BRCA2 genes, accounts for the majority of hereditary breast cancer.(2,4) HBOC is predominantly characterized by early-onset breast cancer and ovarian cancer. Individuals with HBOC are also at increased risks for prostate, pancreatic, and male breast cancers.(2,4)
There are other genes known to increase risk for breast cancer that are included on this panel.(2) The risk for developing cancer associated with these syndromes varies.(2) Some individuals with a disease-causing variant in one of these genes develop multiple primary cancers or bilateral cancers.(2)
The National Comprehensive Cancer Network and the American Cancer Society provide recommendations regarding the medical management of individuals with hereditary breast cancer syndromes.(2,3,6,7)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(8) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance
Day(s) Performed
Varies
Report Available
10 to 14 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81405
81406
81307
81408
81162
81321
81351
81479
81479 (if appropriate for government payers)
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
BRTP | Rapid Hereditary Breast Cancer Test | 97656-3 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
619958 | Test Description | 62364-5 |
619959 | Specimen | 31208-2 |
619960 | Source | 31208-2 |
619961 | Result Summary | 50397-9 |
619962 | Result | 82939-0 |
619963 | Interpretation | 69047-9 |
619964 | Resources | 99622-3 |
619965 | Additional Information | 48767-8 |
619966 | Method | 85069-3 |
619967 | Genes Analyzed | 82939-0 |
619968 | Disclaimer | 62364-5 |
619969 | Released By | 18771-6 |