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Test Code 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.

Secondary ID

614570

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

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

BRCA1/2 Full Gene Analysis

Specimen Type

Varies

Specimen 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

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.

Method Description

Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the BRCA1 and BRCA2 genes, 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 deletion-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-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.

 

There may be regions of the genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences.

 

The reference transcript for BRCA1 gene is NM_007294.4. The reference transcript for BRCA2 gene is NM_000059.3. Reference transcript numbers may be updated due to transcript re-versioning. Always refer to the final patient report for gene transcript information referenced at the time of testing.(Unpublished Mayo method)

 

Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.

Day(s) Performed

Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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