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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).

Have Questions?

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

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 notes

APC: 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 build

GRCh38

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

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