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Hereditary Colorectal Cancer Panel

A 19-gene panel for evaluating hereditary predisposition to colon polyps and colorectal cancer, powered by the Helix Exome+® platform for enhanced clinical accuracy.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Panel Description

Hereditary predisposition to colorectal polyposis and colorectal cancer refers to the increased likelihood of developing colon cancer and/or numerous polyps in the colon and rectum that may become cancerous. Individuals with a pathogenic variant may also have an increased risk of other cancers such as prostate, ovarian, and uterine, depending on the affected gene.

This panel evaluates 19 genes that have an established, primary association with colon polyps and colorectal cancer.

View the complete description of this panel
Sample negative report

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

A personal and/or family history suggestive of a hereditary form of colon polyps and/or colorectal cancer predisposition.

Methodology

This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with hereditary forms of polyposis and colorectal cancer.

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical sensitivity (indel)> 99%Analytical specificity> 99%CNV sensitivity (multi-exon)> 99%CNV sensitivity (single-exon)> 90%Gene notesAPC: analysis includes CNV of promoters 1A and 1B and sequencing of promoter 1B; BMPR1A: analysis includes CNV of promoter; EPCAM: analysis is limited to CNV of exons 8-9; GREM1: analysis is limited t... Genomic buildGRCh38

Genes Tested

APC
AXIN2
BMPR1A
EPCAM
GREM1
MBD4
MLH1
MSH2
MSH3
MSH6
MUTYH
NTHL1
PMS2
POLD1
POLE
PTEN
SMAD4
STK11
TP53

Showing 19 of 19 genes in this panel

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Important Panel Information

Turnaround time: Typically 7-21 days (standard), Typically < 5 days (requery)

Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit

Shipping Instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.


The genes on this panel were specifically selected for their established association with colorectal polyps and colorectal cancer. Identification of a pathogenic variant may facilitate increased cancer screening and preventive surgery for early-detection and prevention. Identification of a pathogenic variant also helps identify at-risk family members, who can pursue genetic testing and preventive measures.

The genes on this panel are associated with conditions that have autosomal dominant and/or autosomal recessive inheritance. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these unrelated conditions.

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