Arrhythmia Panel
Use
The Arrhythmia Panel is intended to identify genetic causes of inherited cardiac arrhythmias—such as Long QT syndrome (LQTS), Brugada syndrome, Catecholaminergic polymorphic ventricular tachycardia (CPVT), Short QT syndrome (SQTS), arrhythmogenic right ventricular cardiomyopathy (ARVC), and sudden cardiac death—in individuals with normal heart structure or specific syndromic features; it informs diagnosis, risk stratification, and management.
Special Instructions
Genomic DNA is extracted from submitted specimens (such as blood or cultured fibroblasts) and enriched for the complete coding regions and splice junctions of the genes on this panel using GeneDx’s proprietary targeted capture system for NGS with CNV calling. Bi-directional sequencing on Illumina platform with alignment and variant calling; alternative methods used for regions with inadequate coverage.
Limitations
Most deletions and duplications involving coding exons can be detected at exon-level; however, technical limitations and inherent sequence properties reduce resolution for some genes. Some regions may require alternative sequencing or CNV methods. Inhibitory resolution exists for poorly captured regions.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided