HELIX SCREENING
Tier One Population Screen
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).
Genes Tested (11)
Important Test Information
Turnaround time: 3-6 weeks
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.