Comprehensive Cardiomyopathy and Arrhythmias Panel
A comprehensive 103-gene panel for assessing cardiomyopathy, arrhythmia, and associated syndromic conditions, powered by the Helix Exome+® platform.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
103
Panel Description
Cardiomyopathies and channelopathies are broad spectrums of cardiovascular diseases with both overlapping and distinct characteristics. Cardiomyopathies are structural and functional disorders of the heart musculature, and channelopathies are electrophysiological disorders affecting heart ion channels. There are many different causes of these disorders, 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 either a cardiomyopathy or channelopathy, diagnostic genetic testing may be ordered.
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Indications for Testing
A personal or family history suggestive of a hereditary form of cardiomyopathy and/or arrhythmia.
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
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. KCNH2: Evaluation of Chr7:150958048-150958065 (c.910_916+11del) will be performed. KCNQ1: Evaluation of Chr11:2461715 (c.386+16231G>A), Chr11:2585210-2585211 (c.1033-1_1117dup) will be performed and sensitivity in KCNQ1 exon 1 may be reduced. 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. TRDN: Evaluation of Chr6:123636725 (c.22+29A>G) will be performed. TTN: Analysis for exons 172 to 197 will not be performed.
Genomic build
GRCh38
Genes Tested
103 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 and channelopathies are broad spectrums of cardiovascular diseases with both overlapping and distinct characteristics. Cardiomyopathies are structural and functional disorders of the heart musculature, and channelopathies are electrophysiological disorders affecting heart ion channels. There are many different causes of these disorders, 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 either a cardiomyopathy or channelopathy, diagnostic genetic testing may be ordered.
This panel evaluates 103 genes associated with cardiomyopathy and arrhythmia, and several syndromic conditions associated with cardiomyopathy and arrhythmia.
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Contact our clinical team to order the Comprehensive Cardiomyopathy and Arrhythmias Panel for your patients.