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.
6-21 days
≤ 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.
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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
> 99%
> 99%
> 99%
> 99%
> 90%
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....
GRCh38
Genes Tested
Showing 25 of 86 genes in this panel