Arrhythmogenic Cardiomyopathy Panel
A 22-gene panel for assessing arrhythmogenic cardiomyopathy and cardiomyopathy with arrhythmia risk, powered by the Helix Exome+® platform.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
22
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, or a family history is suspicious of a hereditary risk of cardiomyopathy, diagnostic genetic testing may be ordered.
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Contact our clinical team to order this panel or learn more.
Indications for Testing
A personal or family history suggestive of a hereditary form of arrhythmogenic 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 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
CDH2: Sensitivity in CDH2 exon1 may be reduced; PRKAG2: Sensitivity in PRKAG2 exon 5 may be reduced; TTN: Analysis for exons 172 to 197 will not be performed.
Genomic build
GRCh38
Genes Tested
22 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, or a family history is suspicious of a hereditary risk of cardiomyopathy, diagnostic genetic testing may be ordered.
This panel evaluates 22 genes associated with arrhythmogenic cardiomyopathy, and cardiomyopathy with arrhythmia risk.
Ready to order this test?
Contact our clinical team to order the Arrhythmogenic Cardiomyopathy Panel for your patients.