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
Requery (SOQO)
≤ 5 days
Genes Tested
19
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.
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Contact our clinical team to order this panel or learn more.
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 notes
APC: 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 to CNV of the promoter; MLH1: analysis includes CNV of the promoter; MSH2: analysis includes detection of the Boland inversion (inversion of exons 1-7) and detection of NM_000251.3(MSH2):c.942+3A>T; MSH3: analysis excludes sequencing of exon 1 repeat region (chr5:80654878-80654946); POLD1: CNV analysis is not performed and sequencing is limited to the 3'-5' exonuclease domain (chr19:50402681-50407039); POLE: CNV analysis is not performed and sequencing is limited to the 3'-5' exonuclease domain (chr12:132676653-132672296); PTEN: analysis includes CNV of the promoter; STK11: sensitivity of exon 3 analysis may be reduced; TP53: analysis includes CNV of the promoter
Genomic build
GRCh38
Genes Tested
19 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 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.
Clinical 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.
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Contact our clinical team to order the Hereditary Colorectal Cancer Panel for your patients.