Comprehensive Arrhythmia Panel

$600.00

Category:

About the Test

The Comprehensive Arrhythmia Panel examines 76 genes associated with hereditary arrhythmias, including Long QT syndrome (LQTS), Brugada syndrome, Short QT syndrome (SQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular cardiomyopathy (ARVC).

Overview

The Comprehensive Arrhythmia Panel examines 76 genes associated with hereditary arrhythmias, including Long QT syndrome (LQTS), Brugada syndrome, Short QT syndrome (SQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular cardiomyopathy (ARVC).

Genes

76 Genes

ABCC9, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CPT1A, CTNNA3, DEPDC5, DES, DSC2, DSG2, DSP, EMD, FLNC, GJA5, GPD1L, GYG1, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, LDB3, LMNA, NKX2-5, NPPA, PCDH19, PDLIM3, PKP2, PLN, PRKAG2, PRRT2, RANGRF, RBM20, RYR2, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SLC25A20, SLC2A1, SLMAP, SNTA1, TBX5, TGFB3, TMEM43, TNNI3, TNNT2, TRDN, TRPM4, TTN

Disorders
Gene Function
Who Is This Test For?
Potential Benefits To My Patients
Clinical Utility
Lab Method & Assay
  • Next Generation Sequencing
  • Deletion/Duplication Analysis
  • Pathogenic and Likely Pathogenic Variants Confirmed With Sanger Sequencing
  • Coverage: 96% at 20X
Test Limitations

All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Gene Specifics
Test Code
Specimen Requirements

Buccal Swab

Turn Around Time

3 – 5 weeks

CPT Codes

81405, 81406, 81407, 81479×1

NOTE: The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

References
  1. Beckmann, B.M., Pfeufer, A., & Kääb, S. Inherited cardiac arrhythmias: diagnosis, treatment, and prevention. Dtsch Arztebl Int. 2011 Sep;108(37):623-33 (2011)
  2. Kim, J.B. Channelopathies. Korean J Pediatr. 2014 Jan;57(1):1-18. doi: 10.3345/kjp.2014.57.1.1. (2014)