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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

Turnaround Requery

≤ 5 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.

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 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 notesAPOB: 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... Genomic buildGRCh38

Genes Tested

APOB
BRCA1
BRCA2
EPCAM
LDLR
LDLRAP1
PCSK9
PMS2
MLH1
MSH2
MSH6

Showing 11 of 11 genes in this panel

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Hereditary Cancer Screen

48

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Hereditary Actionable Disorders Screen

89

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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.

Hereditary breast and ovarian cancer (HBOC) is primarily associated with adult-onset predisposition to these cancer types. Lynch syndrome causes adult-onset colorectal cancer in addition to ovarian, uterine, stomach, small bowel, kidney, and pancreatic. Familial hypercholesterolemia is primarily an adult-onset condition associated with very high levels of LDL cholesterol, which increases the risk of coronary artery disease and heart attack. Identification of a pathogenic variant may facilitate interventions for prevention and risk-reduction. It may also help identify at-risk family members, who can pursue genetic testing and preventive or early detection 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.

This test was developed and validated by Helix, Inc. This test has not been cleared or approved by the United States Food and Drug Administration (FDA). The Helix laboratory is accredited by the College of American Pathologists (CAP) and certified under the Clinical Laboratory Improvement Amendments (CLIA #: 05D2117342) to perform high-complexity clinical tests. This test is used for clinical purposes. It should not be regarded as investigational or for research.