Hereditary Actionable Disorders Screen
An 89-gene screening test for hereditary predisposition to cancer, cardiac disease, metabolic, muscular, and blood clotting disorders, powered by the Helix Exome+® platform.
6-21 days
≤ 5 days
Screen 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).
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Indications for Testing
The genes included in this screening test have established medical management interventions that may prevent disease and/or 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 for most genes on this panel. This test only reports clinically significant pathogenic and likely pathogenic variants, unlike diagnostic testing, which also reports variants of uncertain significance (VUS).
Technical Specifications
> 99%
> 99%
> 99%
> 99%
> 90%
APC: analysis includes CNV of promoters 1A and 1B and sequencing of promoter 1B; APOB: analysis is limited to c.10580G>A and c.10579C>T; BMPR1A: analysis includes CNV of promoter; BRCA1: sequencing an...
GRCh38
Genes Tested
Showing 25 of 89 genes in this panel