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HELIX SCREENING

Hereditary Actionable Disorders Panel

Panel Description

Helix Hereditary Actionable Disorders Panel is a screening test that analyzes genes related to hereditary predisposition to oncology, cardiology, metabolic, muscular and blood clottting disorders. This test only reports clinically significant pathogenic and likely pathogenic variants, unlike diagnostic testing, which also reports variants of uncertain significance (VUS).

Note: This panel currently requires an EHR integration to order.

Genes Tested (69)

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ACTC1
APC
APOB
BAG3
BMPR1A
BRCA1
BRCA2
CALM1
CALM2
CALM3
CASQ2
DES
DSC2
DSG2
DSP
EPCAM
F2
F5
FLNC
GAA
GLA
HFE
KCNH2
KCNQ1
LDLR
LDLRAP1
LMNA
MAX
MEN1
MLH1
MSH2
MSH6
MUTYH
MYBPC3
MYH7
MYL2
MYL3
NF2
PALB2
PCSK9
PKP2
PMS2
PRKAG2
PTEN
RB1
RBM20
RET
RYR2
SCN5A
SDHAF2
SDHB
SDHC
SDHD
SERPINA1
SMAD4
STK11
TMEM127
TMEM43
TNNC1
TNNI3
TNNT2
TP53
TPM1
TRDN
TSC1
TSC2
TTN
TTR
VHL

Important Test 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.

The Helix Hereditary Actionable Disorders Panel analyzes 69 genes related to hereditary predisposition to oncology, cardiology, metabolic, muscular and blood clottting disorders. This test only reports clinically significant pathogenic and likely pathogenic variants, unlike diagnostic testing, which also reports variants of uncertain significance (VUS).

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