HELIX SCREENING
Hereditary Actionable Disorders Screen
Panel Description
Helix Hereditary Actionable Disorders Screen is a screening test that analyzes genes related to hereditary predisposition to oncology, cardiology, metabolic, muscular and blood clotting disorders. This test only reports clinically significant pathogenic and likely pathogenic variants, unlike diagnostic testing, which also reports variants of uncertain significance (VUS).
Genes Tested (86)
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Important Test 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.
Helix Hereditary Actionable Disorders Screen is a screening test that analyzes genes related to hereditary predisposition to cancer, cardiac disease, metabolic disorders, muscular disorders, and blood clotting disorders; analysis of the PMS2 gene excludes exons 11-15, which overlap with a known pseudogene (PMS2CL) and analysis of the F2, F5, HFE, and SERPINA1 genes is limited to specific targeted variants. This test only reports clinically significant pathogenic and likely pathogenic variants but does not report variants of uncertain significance (VUS).
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity; however, this test only reports pathogenic and likely pathogenic variants along with interpretive comments detailing the evidence applied towards classification. Variants of uncertain significance are not reported.