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HELIX SCREENING

Hereditary Cancer Screen

Panel Description

Helix Hereditary Cancer Screen is a screening test that analyzes 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. This test only reports clinically significant pathogenic and likely pathogenic variants but does not report variants of uncertain significance (VUS).

Genes Tested (48)

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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
MSH6
MUTYH
NF1
NTHL1
PALB2
PDGFRA
PMS2
POLD1
POLE
PTEN
RAD51C
RAD51D
SDHA
SDHB
SDHC
SDHD
SMAD4
SMARCA4
STK11
TP53
TSC1
TSC2
VHL

Important Panel Information

Turnaround time: 3-6 weeks

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.

This panel includes genes that have an established association with multiple cancer types including breast, colorectal, uterine, ovarian, prostate, kidney, pancreatic, skin, endocrine glands (thyroid, parathyroid, pituitary, adrenal) gastrointestinal, and nervous system. These genes are primarily associated with adult-onset solid tumors, although some may develop in childhood.

The genes on this panel were specifically selected for their established association with hereditary cancer predisposition. Identification of a pathogenic variant may facilitate early and more frequent screening to help detect cancer at a more treatable stage. Certain medications and preventive surgeries can help to reduce the risk of developing cancer. Identification of a pathogenic variant also helps identify at-risk family members, who can pursue genetic testing and preventive measures.

The genes on this panel are associated with conditions that have autosomal dominant and/or autosomal recessive inheritance. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these conditions.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity; however, this test only reports pathogenic and likely pathogenic variants along with interpretive comments detailing the evidence applied towards classification. Variants of uncertain significance are not reported.

Other Tests to Consider

Tier One Population Screen

11 genes

Hereditary Actionable Disorders Panel

69 genes