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Arrhythmogenic Cardiomyopathy Panel

A 22-gene panel for assessing arrhythmogenic cardiomyopathy and cardiomyopathy with arrhythmia risk, powered by the Helix Exome+® platform.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Panel Description

Cardiomyopathies are a broad spectrum of structural and functional disorders of the heart musculature. There are many different causes of cardiomyopathies, 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 cardiomyopathy, diagnostic genetic testing may be ordered.

This panel evaluates 22 genes associated with arrhythmogenic cardiomyopathy, and cardiomyopathy with arrhythmia risk.

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Indications for Testing

A personal or family history suggestive of a hereditary form of arrhythmogenic cardiomyopathy.

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 CDH2 exon1 may be reduced; PRKAG2: Sensitivity in PRKAG2 exon 5 may be reduced; TTN: Analysis for exons 172 to 197 will not be performed....

Genomic build

GRCh38

Genes Tested

ABCC9
CDH2
DES
DSC2
DSG2
DSP
EMD
FLNC
HCN4
JUP
LMNA
NKX2-5
PKP2
PLN
PPA2
PRKAG2
RBM20
RYR2
SCN5A
TMEM43
TNNI3K
TTN

Showing 22 of 22 genes in this panel

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