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Test ID: HCRC Hereditary Colon Cancer Multi-Gene Panel, Varies

Useful For

Providing a comprehensive evaluation for hereditary colon cancer in patients with a personal or family history suggestive of a hereditary colon cancer syndrome


Serving as a second-tier test for patients in whom previous targeted gene variant analyses for specific hereditary colorectal cancer-related genes were negative


Establishing a diagnosis of a hereditary colon cancer syndrome in some cases, allowing for targeted cancer surveillance of associated extra-colonic organs known to be at increased risk for cancer


Identifying variants within genes known to be associated with increased risk for colon cancer allowing for predictive testing of at-risk family members

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing and Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH) or Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

Hereditary Colon Cancer Panel

Specimen Type


Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Necessary Information


Specimen Required

Prior Authorization is available for this test. Submit the required form with the specimen.


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


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.

Additional Information: 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 Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Clinical Information

Colorectal cancer occurs in approximately 5% to 6% of individuals in the general population. In rare cases, individuals with a family history of colorectal cancer may be at increased risk for colon and other cancers due to a single-gene predisposition syndrome, known as hereditary colorectal cancer. The 2 most common hereditary colorectal cancer syndromes are Lynch syndrome and familial adenomatous polyposis (FAP). However, there are multiple other genes that are also known to cause to hereditary colorectal cancer or contribute to an increased risk for colorectal cancer. This panel uses next-generation sequencing (NGS), array comparative genomic hybridization (aCGH), and other technologies to evaluate for germline variants in 17 genes known to be associated with an increased risk for colon cancer development. Two of the genes listed, CHEK2 and MLH3, are not associated with a known hereditary cancer syndrome defined by a distinct spectrum of tumors. However, literature suggests that variants in these genes may confer an increased risk for colon cancer and, therefore, are predicted to contribute to cancer risk in patients and families.



Known association


Lynch syndrome


Lynch syndrome


Lynch syndrome


Lynch syndrome


Lynch syndrome


Familial adenomatous polyposis


MYH-associated polyposis


Hereditary mixed polyposis syndrome


Peutz-Jeghers syndrome


Juvenile polyposis syndrome


Juvenile polyposis syndrome


PTEN hamartoma tumor syndrome (ie, Cowden syndrome)


Hereditary diffuse gastric cancer


Oligodontia-colorectal cancer syndrome


Li-Fraumeni syndrome


Low-risk gene


Low-risk gene


Indications for testing include but are not limited to:

-Patients in whom no specific colorectal cancer syndrome is evident but for whom there is a clear familial component

-Patients whose family history is consistent with familial colorectal cancer type X(1)

-Patients with a strong suspicion for a single-gene hereditary colon cancer syndrome based on an autosomal dominant pattern of colon cancer in the family

-Patients with a personal or family history of colonic polyposis

Reference Values

An interpretive report will be provided.


All detected alterations are evaluated according to American College of Medical Genetics and Genomics recommendations.(2) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Lindor NM, Rabe K, Petersen GM, et al: Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA. 2005;293(16):1979-1985

2. 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

3. Lindor NM, McMaster ML, Lindor CJ, Greene MH, National Cancer Institute, Division of Cancer Prevention, Community Oncology and Prevention Trials Research Group: Concise handbook of familial cancer susceptibility syndromes-second edition. J Natl Cancer Inst Monogr. 2008;(38):1-93

4. Masciari S, Syngal S: The role of p53 in colorectal cancer. In: Potter JD, Lindor NM, eds. Genetics of Colorectal Cancer. Springer Verlag; 2009:213-217

5. Jaeger E, Leedham S, Lewis A, et al: Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet. 2012;44(6):699-703

6. Ligtenberg MJL, Kuiper RP, Chan TL, et al: Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet. 2009;41(1):112-117

7. Lammi L, Arte S, Somer M, et al: Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet. 2004;74:1043-1050

8. Liu HX, Zhou XL, Liu T, et al: The role of hMLH3 in familial colorectal cancer. Cancer Res. 2003;63(8):1894-1899

Day(s) Performed

Performed weekly

Report Available

4 to 5 weeks

CPT Code Information




LOINC Code Information

Test ID Test Order Name Order LOINC Value
HCRC Hereditary Colon Cancer Panel In Process


Result ID Test Result Name Result LOINC Value
52588 Result Summary 50397-9
52589 Result 82939-0
52590 Interpretation 69047-9
52591 Additional Information 48767-8
52592 Specimen 31208-2
52593 Source 31208-2
52594 Released By 18771-6

Testing Algorithm

The following algorithms are available in Special Instructions:

-Lynch Syndrome Testing Algorithm

-Colonic Polyposis Syndromes Testing Algorithm

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.


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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions

3. Hereditary Colon Cancer Multi-Gene Panel Prior Authorization Ordering Instructions in Special Instructions

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: