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Comprehensive Arrhythmias Panel

A 39-gene panel for evaluating hereditary arrhythmia and associated syndromic conditions, powered by the Helix Exome+® platform for comprehensive cardiac assessment.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Panel Description

Channelopathies and cardiomyopathies are broad spectrums of cardiovascular diseases with both overlapping and distinct characteristics. Cardiomyopathies are structural and functional disorders of the heart musculature, and channelopathies are electrophysiological disorders affecting heart ion channels. There are many different causes of these disorders, which range from environmental exposures to inherited genetic risk factors. In cases where an external cause is not identified, or a family history is suspicious of a hereditary risk of either a cardiomyopathy or channelopathy, diagnostic genetic testing may be ordered.

This panel evaluates 39 genes associated with arrhythmia, and several syndromic conditions associated with arrhythmia.

Have Questions?

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

Indications for Testing

A personal or family history suggestive of a hereditary form of arrhythmia.

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 hereditary forms of cardiomyopathies or arrhythmias.

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

CDH2: Sensitivity in exon 1 may be reduced; KCNH2: Evaluation of chr7:150958048-150958065 (c.910_916+11del) will be performed; KCNQ1: Sensitivity in exon 1 may be reduced, evaluations of chr11:2461715...

Genomic build

GRCh38

Genes Tested

ABCC9
ANK2
CACNA1C
CACNA1D
CALM1
CALM2
CALM3
CASQ2
CAV3
CDH2
DES
DSC2
DSG2
DSP
EMD
FLNC
HCN4
JUP
KCNE1
KCNE2
KCNH2
KCNJ2
KCNQ1
LMNA
MYL4

Showing 25 of 39 genes in this panel

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