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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)

Secondary ID

619957

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

Disease States

  • Breast cancer

Testing Algorithm

For more information see Breast, Gynecological and Prostate Cancer Testing Algorithm

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 Test

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

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

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

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

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