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
Requery (SOQO)
≤ 5 days
Genes Tested
48
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).
Order This Test
Contact our clinical team to order this panel or learn more.
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 detection of c.156_157insAlu and sequencing analysis extends to CDS +/-20 bp; CDKN2A: analysis includes sequencing of the p16 (p16INK4a) and p14 (p14ARF) transcripts; EPCAM: analysis is limited to CNV of exons 8-9; GREM1: analysis is limited to CNV of the promoter; HOXB13: analysis is limited to the c.251G>A (p.Gly84Glu) variant; MLH1: analysis includes CNV of the promoter; MSH2: analysis includes detection of the Boland inversion (inversion of exons 1-7) and detection of c.942+3A>T; MSH3: analysis excludes sequencing of exon 1 repeat region; PMS2: analysis is limited to exons 1-10; POLD1: CNV analysis is not performed and sequencing is limited to the 3'-5' exonuclease domain; POLE: CNV analysis is not performed and sequencing is limited to the 3'-5' exonuclease domain; PTEN: analysis includes CNV of the promoter; SDHA: analysis excludes CNV; STK11: sensitivity of exon 3 analysis may be reduced; TP53: analysis includes CNV of the promoter; TSC1: sensitivity of exon 21 analysis may be reduced; VHL: analysis excludes coverage of the cryptic E1' exon
Genomic build
GRCh38
Genes Tested
48 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
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).
Ready to order this test?
Contact our clinical team to order the Hereditary Cancer Screen for your patients.