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Test 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 Analysis

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

21 days to 28 days

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

NY State Approved

Yes

Testing Algorithm

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