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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

Turnaround Requery

≤ 5 days

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.

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.

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

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...

Genomic build

GRCh38

Genes Tested

AIP
ALK
APC
ATM
AXIN2
BAP1
BARD1
BLM
BMPR1A
BRCA1
BRCA2
BRIP1
CDC73
CDH1
CDK4
CDKN1B
CDKN2A
CEBPA
CHEK2
CTNNA1
DICER1
DDX41
EGFR
EPCAM
ETV6

Showing 25 of 78 genes in this panel

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