Hereditary Comprehensive Cancer Panel Plus
A comprehensive 78-gene panel for assessing hereditary risk across breast, gynecologic, colorectal, pancreatic, prostate, kidney, skin, brain, endocrine, and hematologic cancers, powered by the Helix Exome+® platform.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
78
Panel Description
This panel will have an increased Variant of Uncertain Significance (VUS) rate compared to the Helix Comprehensive Cancer Panel. This panel includes additional hematologic malignancy and pediatric cancer genes and applies whole gene reporting for EGFR, HOXB13, MITF, POLD1, and POLE.
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Contact our clinical team to order this panel or learn more.
Indications for Testing
A relevant personal and/or family history suggestive of a hereditary form of cancer.
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 a variety of hereditary conditions predisposing to a variety of cancers including: breast, gynecologic (ovarian and uterine), colorectal, pancreatic, prostate, kidney, skin, brain and nervous system, and endocrine glands (adrenal, pituitary, parathyroid, thyroid).
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; 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. CDKN2A: analysis includes sequencing of the p16 (p16INK4a) and p14 (p14ARF) transcripts; EGFR: analysis is limited to the NM_005228(EGFR):c.2369C>T (p.Thr790Met) variant; EPCAM: analysis is limited to CNV of exons 8-9; GREM1: analysis is limited to CNV of the promoter; HOXB13: analysis is limited to the NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) variant; MITF: analysis is limited to the NM_000248.4(MITF):c.952G>A (p.Glu318Lys) variant; MLH1: analysis includes CNV of the promoter; MSH2: analysis includes detection of the Boland inversion (inversion of exons 1-7) and detection of NM_000251.3(MSH2):c.942+3A>T; MSH3: analysis excludes sequencing of exon 1 repeat region (chr5:80654878-80654946); POLD1: CNV analysis is not performed and sequencing is limited to the 3'-5' exonuclease domain (chr19:50402681-50407039); POLE: CNV analysis is not performed and sequencing is limited to the 3'-5' exonuclease domain (chr12:132676653-132672296); PTCH1: sensitivity of exon 1 analysis may be reduced; PTEN: analysis includes CNV of the promoter; SDHA: analysis excludes CNV; STK11: sensitivity of exon 3 analysis may be reduced; TP53: analysis includes CNV of the promoter; TSC1: sensitivity of exon 21 analysis may be reduced; VHL: analysis excludes coverage of the cryptic E1' exon (chr3:10142758-10143009)
Genomic build
GRCh38
Genes Tested
78 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
This panel will have an increased Variant of Uncertain Significance (VUS) rate compared to the Helix Comprehensive Cancer Panel. This panel includes additional hematologic malignancy and pediatric cancer genes and applies whole gene reporting for EGFR, HOXB13, MITF, POLD1, and POLE.
This panel evaluates 78 genes associated with hereditary cancer conditions that predispose to a variety of solid and hematologic malignancies across many organ systems including: breast, gynecologic (ovarian and uterine), colorectal, pancreatic, prostate, kidney, skin, brain and nervous system, and endocrine glands (adrenal, pituitary, parathyroid, thyroid). Some of these predispositions manifest in childhood, but most are adult-onset.
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Contact our clinical team to order the Hereditary Comprehensive Cancer Panel Plus for your patients.