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HELIX DIAGNOSTICS

Hereditary Colorectal Cancer Panel

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 20 genes that have an established, primary association with colon polyps and colorectal cancer.

Genes Tested (20)

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APC
AXIN2
BMPR1A
CHEK2
EPCAM
GREM1
MBD4
MLH1
MSH2
MSH3
MSH6
MUTYH
NTHL1
PMS2
POLD1
POLE
PTEN
SMAD4
STK11
TP53

Important Panel Information

Turnaround time: 7-24 days

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.

Other Tests to Consider

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Hereditary Breast Cancer Panel

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