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HelpTest 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.
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
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 87 genes associated with a variety of hereditary cancer syndromes: AIP, ALK, APC (including promoters 1A and 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, WT1. See Method Description and Targeted Genes and Methodology Details for Hereditary Expanded Cancer Panel for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for a variety of hereditary cancer syndromes.
Disease States
- Breast cancer
Special Instructions
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 PanelSpecimen Type
VariesSpecimen 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.
Day(s) Performed
Varies
Report Available
21 to 28 daysSpecimen Retention Time
Whole Blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming 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 |