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
Requery (SOQO)
≤ 5 days
Genes Tested
86
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.
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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.
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. DMD: Evaluation of chrX:33174335 (c.31+36947G>A), chrX:31261663 (c.9225-647A>G), and chrX:31261301 (c.9225-285A>G) will be performed. FKTN: Evaluation of chr9:105606576 (c.648-1243G>T) will be performed. GAA: Evaluation of chr17:80104542 (c.-32-13T>G), chr17:80104552 (c.-32-3C>A), chr17:80104554 (c.-32-1G>C), and chr17:80108467 (c.1076-22T>G) will be performed. GLA: Evaluation of chrX: 101399747 (c.640-801G>A) will be performed. MAP2K2: Sensitivity in exon 1 may be reduced. MYBPC3: Evaluation of chr11:47332275-47332299 (c.3628-41_2628-17del25), chr11:47347065 (c.906-36G>A), chr11:47346372 (c.927-2A>G), chr11:47343281 (c.1224-19G>A), chr11:47343314 (c.1224-52G>A), chr11:47343158 (c.1227-13G>A), and chr11:47340403 (c.1927+600C>T) will be performed. PRDM16: Analysis for exon 1 will not be performed. PRKAG2: Sensitivity in exon 5 may be reduced. SLC22A5: Evaluation of chr5:132369824 (c.-149G>A), chr5:132378362 (c.394-16T>A), and chr5:132386973 (c.825-52G>A) will be performed. SOS2: Sensitivity in exon 1 may be reduced. TTN: Analysis for exons 172 to 197 will not be performed.
Genomic build
GRCh38
Genes Tested
86 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 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.
Clinical 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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Contact our clinical team to order the Comprehensive Cardiomyopathy Panel for your patients.