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Hereditary Cancer Screen

A 48-gene screening test for hereditary cancer predisposition across breast, gynecologic, prostate, and gastrointestinal systems, powered by the Helix Exome+® platform.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Panel Description

Helix Hereditary Cancer Screen is a screening test that analyzes 48 genes associated with hereditary cancer conditions that predispose to a variety of primarily adult-onset solid tumors across many organ systems including: breast, gynecologic (ovarian and uterine), prostate, and those in the gastrointestinal system. This test only reports clinically significant pathogenic and likely pathogenic variants but does not report variants of uncertain significance (VUS).

View the complete description of this screen
Sample positive report

Have Questions?

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

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

This is a screening test and therefore is not recommended for individuals with a personal and/or family history suggestive of one of the associated conditions. Early detection and/or intervention for the conditions tested here could significantly reduce morbidity and mortality.

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 conditions predisposing to cancers including: breast, gynecologic (ovarian and uterine), prostate, and those in the gastrointestinal system.

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; BRCA1: sequencing analysis extends to CDS +/-20 bp; BRCA2: analysis includes... Genomic buildGRCh38

Genes Tested

APC
ATM
AXIN2
BAP1
BARD1
BMPR1A
BRCA1
BRCA2
BRIP1
CDH1
CDK4
CDKN2A
CHEK2
CTNNA1
DICER1
EPCAM
FH
GREM1
HOXB13
KIT
MBD4
MEN1
MLH1
MSH2
MSH3

Showing 25 of 48 genes in this panel

Other Tests to Consider

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Tier One Population Screen

11

genes

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Hereditary Actionable Disorders Screen

89

genes

Important Panel Information

Turnaround time: Typically 1-4 weeks (standard), Typically < 21 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.

This panel includes genes that have an established association with multiple cancer types including breast, colorectal, uterine, ovarian, prostate, kidney, pancreatic, skin, endocrine glands (thyroid, parathyroid, pituitary, adrenal) gastrointestinal, and nervous system. These genes are primarily associated with adult-onset solid tumors, although some may develop in childhood.

The genes on this panel were specifically selected for their established association with hereditary cancer predisposition. Identification of a pathogenic variant may facilitate early and more frequent screening to help detect cancer at a more treatable stage. Certain medications and preventive surgeries can help to reduce the risk of developing cancer. 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 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; however, this test only reports pathogenic and likely pathogenic variants along with interpretive comments detailing the evidence applied towards classification. Variants of uncertain significance are not reported.