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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 Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for 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 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.

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 (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

BRCA1/2 Full Gene Analysis

Specimen Type

Varies

Specimen 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.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Day(s) Performed

Varies

Report Available

21 to 28 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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