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Common Hereditary Cancers Panel

A 48-gene panel for assessing hereditary risk across breast, gynecologic, prostate, and gastrointestinal cancers, powered by the Helix Exome+® platform for comprehensive coverage.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Panel Description

This panel evaluates 48 genes associated with hereditary cancer conditions that predispose to a variety of primarily adult-onset solid tumors across many organ systems including: breast, gynecologic (ovarian and uterine), prostate, and those in the gastrointestinal system.

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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 cancers including: breast, gynecologic (ovarian and uterine), prostate, and those in the gastrointestinal system.

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

APC
ATM
AXIN2
BAP1
BARD1
BMPR1A
BRCA1
BRCA2
BRIP1
CDH1
CDK4
CDKN2A
CHEK2
CTNNA1
DICER1
EPCAM
FH
GREM1
HOXB13
KIT
MBD4
MEN1
MLH1
MSH2
MSH3

Showing 25 of 48 genes in this panel

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