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HelpTest ID: HBOCZ BRCA1/BRCA2 Genes, Full Gene Analysis, Varies
Ordering Guidance
For a comprehensive hereditary cancer gene panel that includes BRCA1 and BRCA2 genes, consider 1 of the following tests:
-BRGYP / Hereditary Breast/Gynecologic Cancer Panel, Varies
-PANCP / Hereditary Pancreatic Cancer Panel, Varies
-PRS8P / Hereditary Prostate Cancer Panel, Varies
Testing for BRCA1 and BRCA2 genes as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for these genes. 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 (T519)
3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.
Useful For
Evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome
Establishing a diagnosis of HBOC syndrome allowing for targeted cancer surveillance based on associated risks
Identifying variants within genes known to be associated with increased risk for HBOC syndrome allowing for predictive testing of at-risk family members
Therapeutic eligibility including poly adenosine diphosphate-ribose polymerase inhibitors in select cancer types
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 2 genes associated with hereditary breast and ovarian cancer syndrome: BRCA1 and BRCA2. See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary breast and ovarian cancer syndrome.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
BRCA1/2 Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Hereditary breast and ovarian cancer (HBOC) syndrome is an autosomal dominant hereditary cancer syndrome associated with germline variants in the BRCA1 or BRCA2 genes.
Variants within BRCA1 and BRCA2 account for the majority of hereditary breast and ovarian cancer families.(1,2) However, additional genes are known to be associated with hereditary breast and ovarian cancer syndromes. See BRGYP / Hereditary Breast/Gynecologic Cancer Panel, Varies.
HBOC syndrome is predominantly characterized by early-onset breast and ovarian cancer. Individuals with breast and ovarian cancer are also at increased risks for prostate, pancreatic, and male breast cancers. Some individuals develop multiple primary or bilateral cancers.(1,2)
Individuals with biallelic disease-causing variants in BRCA1 and BRCA2 are at risk for Fanconi anemia, an autosomal recessive bone marrow failure syndrome. Of note, there are several other genes known to cause Fanconi anemia.(1)
The National Comprehensive Cancer Network and the American Cancer Society provide recommendations regarding the medical management of individuals with HBOC syndrome.(2-4)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Petrucelli N, Daley MB, Pal T. BRCA1- and BRCA2-associated hereditary breast and ovarian cancer. In: Adams MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1998. Updated May 26, 2022. Accessed June 28, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1247/
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. 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
4. 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
5. 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
21 days to 28 daysTest 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
81162
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| HBOCZ | BRCA1/2 Full Gene Analysis | 94191-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614719 | Test Description | 62364-5 |
| 614720 | Specimen | 31208-2 |
| 614721 | Source | 31208-2 |
| 614722 | Result Summary | 50397-9 |
| 614723 | Result | 82939-0 |
| 614724 | Interpretation | 69047-9 |
| 614725 | Resources | 99622-3 |
| 614726 | Additional Information | 48767-8 |
| 614727 | Method | 85069-3 |
| 614728 | Genes Analyzed | 48018-6 |
| 614729 | Disclaimer | 62364-5 |
| 614730 | Released By | 18771-6 |
Testing Algorithm
For more information see Breast, Gynecological and Prostate Cancer Testing Algorithm
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