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 / Hereditary Common 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 Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a bone marrow transplant, call 800-533-1710.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (Sodium heparin)
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 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for samples received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional information: Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
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 (T519)
3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.
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
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) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Rapid Hereditary Breast Cancer TestSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL; Saliva: See Specimen Required
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
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
Clinical Reference
1. Howlader N, Noone AM, Krapcho M. SEER Cancer Statistics Review, 1975-2018, National Cancer Institute. Updated April 2021. Accessed May 11, 2023. Available at https://seer.cancer.gov/csr/1975_2018/
2. Daly MB, Pal T, Berry M, et al. NCCN Guidelines Insights: Genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2021. J Natl Compr Canc Netw. 2021;19(1):77-102
3. Gupta S, Provenzale D, Llor X, et al. NCCN Guidelines Insights: Genetic/familial high-risk assessment: colorectal, version 2.2019. J Natl Compr Canc Netw. 2019;17(9):1032-1041
4. Petrucelli N, Daley MB, Pal T. BRCA1- and BRCA2-associated hereditary breast and ovarian cancer. In: Adams MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1998. Updated September 21, 2023. Accessed September 12, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1247/
5. Idos G, Valle L. Lynch syndrome. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2004. Updated February 2, 2021. Accessed September 12, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1211/
6. Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57(2):75-89
7. Smith RA, Andrews KS, Brooks D, et al. Cancer screening in the United States, 2019: A review of current American Cancer Society guidelines and current issues in cancer screening. CA Cancer J Clin. 2019;69(3):184-210
8. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
Day(s) Performed
Varies
Report Available
10 to 14 daysPerforming 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 |