Tier One Population Screen
An 11-gene screening test for hereditary breast and ovarian cancer (HBOC), Lynch syndrome, and familial hypercholesterolemia, powered by the Helix Exome+® platform.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
11
Panel Description
Helix Tier One Population Screen is a screening test that analyzes 11 genes related to hereditary breast and ovarian cancer (HBOC) syndrome, Lynch syndrome, and familial hypercholesterolemia. This test only reports clinically significant pathogenic and likely pathogenic variants, unlike diagnostic testing, which also reports variants of uncertain significance (VUS). In addition, analysis of the PMS2 gene excludes exons 11-15, which overlap with a known pseudogene (PMS2CL).
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Contact our clinical team to order this panel or learn more.
Indications for Testing
This is a screening test for Tier 1 genomic applications as defined by the CDC. Early detection and intervention for each condition 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 breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia. This test only reports clinically significant pathogenic and likely pathogenic variants but does not report variants of uncertain significance (VUS).
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
APOB: analysis is limited to c.10580G>A and c.10579C>T; BRCA1: sequencing analysis extends to CDS +/-20 bp; BRCA2: analysis includes detection of c.156_157insAlu and sequencing analysis extends to CDS +/-20 bp. EPCAM: analysis is limited to CNV of exons 8-9; LDLR: analysis includes 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 c.942+3A>T, PMS2: analysis is limited to exons 1-10.
Genomic build
GRCh38
Genes Tested
11 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 Tier One Population Screen is a screening test that analyzes 11 genes related to hereditary breast and ovarian cancer (HBOC) syndrome, Lynch syndrome, and familial hypercholesterolemia. This test only reports clinically significant pathogenic and likely pathogenic variants, unlike diagnostic testing, which also reports variants of uncertain significance (VUS). In addition, analysis of the PMS2 gene excludes exons 11-15, which overlap with a known pseudogene (PMS2CL).
Note: This panel currently requires an EHR integration to order.
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Contact our clinical team to order the Tier One Population Screen for your patients.