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Test Code BRGYP Hereditary Breast/Gynecologic Cancer Panel, Varies


Ordering Guidance


Customization of this panel and single gene analysis for any gene present on this panel are 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 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 (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 a hereditary breast or gynecological cancer syndrome

 

Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer surveillance based on associated risks

 

Identifying genetic variants associated with increased risk for breast or gynecological cancers, allowing for predictive testing and appropriate screening of at-risk family members

 

Therapeutic eligibility with poly adenosine diphosphate-ribose polymerase (PARP) inhibitors based on certain gene alterations (eg, BRCA1, BRCA2) in selected tumor types

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 20 genes associated with hereditary breast and/or gynecologic cancers: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM (copy number variants only), MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN (including promoter), RAD51C, RAD51D, STK11, TP53. For more information, see Method Description and Targeted Genes and Methodology Details for Hereditary Breast/Gynecologic Cancer Panel.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary breast and gynecologic cancers.

Disease States

  • Breast cancer

Reporting Name

Hereditary Breast/Gyn Cancer Panel

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.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

21 to 28 days

Specimen Retention Time

Whole blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81317

81319

81403

81432

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BRGYP Hereditary Breast/Gyn Cancer Panel 97655-5

 

Result ID Test Result Name Result LOINC Value
614647 Test Description 62364-5
614648 Specimen 31208-2
614649 Source 31208-2
614650 Result Summary 50397-9
614651 Result 82939-0
614652 Interpretation 69047-9
614653 Resources 99622-3
614654 Additional Information 48767-8
614655 Method 85069-3
614656 Genes Analyzed 48018-6
614657 Disclaimer 62364-5
614658 Released By 18771-6