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.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
89
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).
Order This Test
Contact our clinical team to order this panel or learn more.
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
Analytical sensitivity (SNV)
> 99%
Analytical sensitivity (indel)
> 99%
Analytical specificity
> 99%
CNV sensitivity (multi-exon)
> 99%
CNV sensitivity (single-exon)
> 90%
Gene notes
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 analysis extends to CDS +/-20 bp; BRCA2: analysis includes detection of c.156_157insAlu and sequencing analysis extends to CDS +/-20 bp; EPCAM: analysis is limited to CNV of exons 8-9; F2: analysis is limited to c.*97G>A; F5: analysis is limited to c.1601G>A (p.Arg534Gln); HFE: Analysis is limited to c.845G>A (p.Cys282Tyr) and c.187C>G (p.His63Asp); KCNQ1: Sensitivity in KCNQ1 exon 1 may be reduced; LDLR: analysis includes CNV of the promoter; MLH1: analysis includes CNV of the promoter; MSH2: analysis includes detection of the Boland inversion (inversion of exons 1-7) and detection of c.942+3A>T; PMS2: analysis is limited to exons 1-10; PTEN: analysis includes CNV of the promoter; SERPINA1: analysis is limited to c.1096G>A and c.863A>T; STK11: Sensitivity in STK11 exon 3 may be reduced; TP53: analysis includes CNV of the promoter; TSC1: Sensitivity in TSC1 exon 21 may be reduced; TTN: analysis is limited to exons 1-10, 14-44, 47, 49-50, 101, 104-114, 220-224, 226-242, and 244-363; VHL: analysis excludes coverage of the cryptic E1' exon (chr3:10142758-10143009)
Genomic build
GRCh38
Genes Tested
89 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 days (standard), Typically ≤ 5 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.
Clinical 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).
Ready to order this test?
Contact our clinical team to order the Hereditary Actionable Disorders Screen for your patients.