Sign in →

Test Code 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 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 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.

Secondary ID

614318

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

Disease States

  • Breast cancer

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

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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.

Method Description

Next-generation sequencing (NGS) and/or Sanger sequencing are 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, multiplex ligation-dependent probe amplification (MLPA), 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. PCR and gel electrophoresis is performed to test for the presence of the 10 megabase inversion of coding exons 1-7 of the MSH2 gene.

 

There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. For details regarding the targeted genes analyzed and specific gene regions not routinely covered see Targeted Genes and Methodology Details for Hereditary Expanded Cancer Panel.(Unpublished Mayo method)

 

Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.

 

Genes analyzed: AIP, ALK, APC (including promoters 1A & 1B), ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, ELP1, EPCAM (copy number variants only), EXT1, EXT2, FANCA, FH, FLCN, GPC3, GREM1 (upstream enhancer region duplication only), HOXB13, KIT, LZTR1, MAX, MC1R, MEN1, MET, MITF (c.952G>A p.E318K variant only), MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN (including promoter), RAD51B, RAD51C, RAD51D, RB1, RECQL4, REST, RET, RNF43, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TRIP13, TSC1, TSC2, VHL, WRN, and WT1

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

81162

81201

81292

81295

81298

81307

81317

81319

81321

81351

81403

81404 x4

81405 x6

81406 x7

81407

81408 x2

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
XCP Hereditary Expanded Cancer Panel 97656-3

 

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