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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

Requery (SOQO)

≤ 5 days

Genes Tested

39

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.

Order This Test

Contact our clinical team to order this panel or learn more.

(855) 699-1933
clinicalsupport@helix.com

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 (c.386+16231G>A) and chr11:2585210-2585211 (c.1033-1_1117dup) will be performed; PRKAG2: Sensitivity in exon 5 may be reduced; TRDN: Evaluation of chr6:123636725 (c.22+29A>G) will be performed; TTN: Analysis for exons 172 to 197 will not be performed.

Genomic build

GRCh38

Genes Tested

39 genes included in this panel

ABCC9ANK2CACNA1CCACNA1DCALM1CALM2CALM3CASQ2CAV3CDH2DESDSC2DSG2DSPEMDFLNCHCN4JUPKCNE1KCNE2KCNH2KCNJ2KCNQ1LMNAMYL4NKX2-5PKP2PLNPPA2PRKAG2RBM20RYR2SCN5ASLC4A3TECRLTMEM43TNNI3KTRDNTTN

Ordering Information

Turnaround Time

Typically 6-21 days (standard), Typically ≤ 5 days (requery)

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.

Clinical 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.

Ready to order this test?

Contact our clinical team to order the Comprehensive Arrhythmias Panel for your patients.