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Comprehensive Cardiomyopathy Panel

An 86-gene panel for assessing cardiomyopathy and associated syndromic conditions, powered by the Helix Exome+® platform for comprehensive cardiac genetic evaluation.

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, and/or a family history is suspicious for hereditary risk, diagnostic genetic testing may be indicated.

This panel evaluates 86 genes that have an established, primary association with cardiomyopathy, and several syndromic conditions of which cardiomyopathy is a feature.

View the complete description of this panel

Have Questions?

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

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

Providing a genetic evaluation for individuals with a personal and/or family history suggestive of a hereditary form of cardiomyopathy. Establishing a diagnosis of a hereditary form of cardiomyopathy predisposition.

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 cardiomyopathy.

Validated for Validated for SNVs, Indels, CNVs

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical sensitivity (indel)> 99%Analytical specificity> 99%CNV sensitivity (multi-exon)> 99%CNV sensitivity (single-exon)> 90%Gene notesAGL: 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 buildGRCh38

Genes Tested

ABCC9
ACAD9
ACADVL
ACTC1
ACTN2
AGL
ALMS1
ALPK3
BAG3
BMP10
BRAF
CDH2
CPT2
CRYAB
CSRP3
DES
DMD
DNAJC19
DOLK
DSC2
DSG2
DSP
DTNA
ELAC2
EMD

Showing 25 of 86 genes in this panel

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genes

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Brugada Syndrome Test

1

gene

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Aortopathies Panel

29

genes

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Comprehensive Arrhythmias Panel

39

genes

Important Panel Information

Turnaround time: Typically 7-21 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.

Hypertrophic Cardiomyopathy (HCM) is a condition in which the heart muscle becomes abnormally thick. This leads to a decrease in the heart's ability to pump blood effectively. This can cause fatigue, shortness of breath, swelling of the legs, heart rhythm abnormalities and, in severe cases, heart failure or sudden cardiac arrest. Dilated Cardiomyopathy (DCM) is a condition in which the heart chambers become enlarged, weakening the heart muscle. In individuals with left ventricular noncompaction (LVNC), LVNC is characterized by endomyocardial trabeculations which can have variable effects on heart musculature, including ventricular dilation. Individuals with DCM or LVNC may be asymptomatic, or may be symptomatic with arrhythmia, left ventricular dysfunction, thromboembolic disease, and/or life-threatening arrhythmias. Arrhythmogenic cardiomyopathy (ACM) is characterized by fibrofatty infiltration of ventricle musculature which may present as arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC) or arrhythmogenic left ventricular cardiomyopathy/dysplasia (ALVC). These findings are associated with increased risk for ventricular dysfunction, and arrhythmogenic events which may result in syncope or, in rare cases, cardiac arrest or sudden death.

It is important to note that in some cases HCM, DCM, LVNC and ARVC may be a feature of a larger syndromic condition. Hereditary forms of these conditions may follow autosomal dominant, autosomal recessive, X-linked or mitochondrial inheritance patterns. This panel does not assess mitochondrial inheritance. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these unrelated conditions.

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 and reported with interpretive comments detailing their potential or known significance.