Hypertrophic Cardiomyopathy Panel
A 47-gene panel for evaluating hereditary hypertrophic cardiomyopathy, powered by the Helix Exome+® platform for superior coverage of complex cardiac regions.
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 47 genes associated with hereditary forms of hypertrophic cardiomyopathy.
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Indications for Testing
A personal or family history suggestive of a hereditary form of hypertrophic 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 hypertrophic cardiomyopathy.
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. GAA: Evaluation of chr17:80104542 (c.-32-13...
GRCh38
Genes Tested
Showing 25 of 47 genes in this panel