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Test ID XCP Hereditary Expanded 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 Mutation, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.



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 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)

3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.

Useful For

Evaluating hereditary cancer in patients with a personal or family history suggestive of a hereditary cancer syndrome

 

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

 

Identifying genetic variants associated with increased risk for cancer, 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

Method Name

Sequence Capture and Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Sanger Sequencing and/or Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

Hereditary Expanded Cancer Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Hereditary cancer syndromes explain about 5% to 10% of cancer cases.(1,2) Determining if there is a genetic risk factor contributing to cancer in an individual or family can be useful for tailoring surveillance plans, consideration of prophylactic risk reducing interventions, targeted cancer treatments, and determining risk for family members.(3)

 

This panel evaluates 87 genes associated with an increased risk for the following cancers: breast, colon, gastric, ovarian, pancreatic, prostate, renal, skin, thyroid, and endometrial cancers, as well as paragangliomas, pheochromocytomas, and Wilms tumor.

 

The risk for developing cancer associated with these syndromes varies. Several of the of the genes on this panel have established cancer risk and National Comprehensive Cancer Network (NCCN) or expert group guidelines and recommendations for management.(4-9)

 

Indications for testing include but are not limited to:

-Individuals with multiple primary cancers

-Individuals with cancer diagnosed at young age

-Individuals with a family history of multiple relatives with cancer

-Individuals whose family history of cancer may seem to overlap with more than one hereditary cancer syndrome

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(10) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Howlader N, Noone AM, Krapcho M, et al: SEER Cancer Statistics Review. 1975-2018. National Cancer Institute. Updated April 2021. Accessed November 9, 2022. Available at: https://seer.cancer.gov/csr/1975_2018/

2. Nagy R, Sweet K, Eng C: Highly penetrant hereditary cancer syndromes. Oncogene. 2004 Aug 23;23(38):6445-6470

3. Samadder NJ, Rigert-Johnson D, Boardman L, et al: Comparison of universal genetic testing vs guideline-directed targeted testing or patients with hereditary cancer syndrome. JAMA Oncol. 2021 Feb 1;7(2):230-237

4. Daly MB, Pal T, Berry MP, et al: Genetic/familial high-risk assessment: Breast, ovarian, and pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102

5. Gupta S, Provenzale D, Llor X, et al: NCCN Guidelines Insights: Genetic/familial high-risk assessment: colorectal, version 2.2019. J Natl Compr Canc Netw. 2019 Sep 1;17(9):1032-1041

6. Coit DG, Thompson JA, Albertini MR, et al: Cutaneous melanoma, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2019 Apr 1;17(4):367-402

7. Haddad RI, Nasr C, Bischoff L, et al: NCCN Guidelines Insights: Thyroid carcinoma, Version 2.2018. J Natl Compr Canc Netw. 2018 Dec;16(12):1429-1440

8. Saslow D, Boetes C, Burke W, et al: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89

9. Smith RA, Andrews KS, Brooks D, et al: Cancer screening in the United States, 2019: A review of current American Cancer Society guidelines and current issues in cancer screening. CA Cancer J Clin. 2019 May;69(3):184-210

10. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424

Day(s) Performed

Varies

Report Available

21 to 28 days

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81319

81403

81292

81295

81298

81162

81201

81307

81321

81351

81404 x 4

81405 x 6

81406 x 7

81407

81408 x 2

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
XCP Hereditary Expanded Cancer Panel In Process

 

Result ID Test Result Name Result LOINC Value
614899 Test Description 62364-5
614900 Specimen 31208-2
614901 Source 31208-2
614902 Result Summary 50397-9
614903 Result 82939-0
614904 Interpretation 69047-9
614905 Resources 99622-3
614906 Additional Information 48767-8
614907 Method 85069-3
614908 Genes Analyzed 48018-6
614909 Disclaimer 62364-5
614910 Released By 18771-6