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HelpTest 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.
Secondary ID
619957Useful 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
Specimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL; Saliva: See Specimen Required
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.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
Method Description
Next-generation sequencing (NGS) and/or Sanger sequencing is performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletions/insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction (PCR)-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.
There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis due to technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. See Targeted Genes and Methodology Details for Rapid Hereditary Breast Cancer Treatment Decision Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered. (Unpublished Mayo method)
Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.
Genes analyzed: ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN (including promoter), RAD51C, RAD51D, STK11, and TP53
Day(s) Performed
Varies
Report Available
10 to 14 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Saliva: 1 month; Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81432
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 |