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Comprehensive Cardiomyopathy and Arrhythmias Panel

A comprehensive 103-gene panel for assessing cardiomyopathy, arrhythmia, and associated syndromic conditions, powered by the Helix Exome+® platform.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Panel Description

Cardiomyopathies and channelopathies 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 103 genes associated with cardiomyopathy and arrhythmia, and several syndromic conditions associated with cardiomyopathy and 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 cardiomyopathy and/or 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

AGL: Evaluation of chr1: 99916398 (c.4260-12A>G) will be performed. ALPK3: Sensitivity in exon 1 may be reduced. BRAF: Sensitivity in exon 1 may be reduced. CDH2: Sensitivity in exon 1 may be reduced....

Genomic build

GRCh38

Genes Tested

ABCC9
ACAD9
ACADVL
ACTC1
ACTN2
AGL
ALMS1
ALPK3
ANK2
BAG3
BMP10
BRAF
CACNA1C
CACNA1D
CALM1
CALM2
CALM3
CASQ2
CAV3
CDH2
CPT2
CRYAB
CSRP3
DES
DMD

Showing 25 of 103 genes in this panel

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