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.
7-28 days
≤ 21 days
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).
Note: This panel currently requires an EHR integration to order.
Have Questions?
Our team is available Monday through Friday, 9am-5pm Pacific Time.
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
> 99%
> 99%
> 99%
> 99%
> 90%
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...
GRCh38
Genes Tested
Showing 11 of 11 genes in this panel