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Comprehensive Arrhythmia NGS Panel

Diseases Targeted:

Arrhythmia
Long QT Syndrome
Brugada Syndrome
Short QT Syndrome
Catecholaminergic Polymorphic Ventricular Tachycardia
Arrhythmogenic Right Ventricular Cardiomyopathy

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).

Who is this test for?

Patients with a personal and/or family history suggestive of a hereditary arrhythmia. Red flags for hereditary arrhythmias can include, but are not limited to, episodes of heart palpitations, dizziness, fainting, shortness of breath, seizures, cardiac arrest, and sudden cardiac death. Some individuals found to have an arrhythmia gene mutation may never develop symptoms.

What are the potential benefits for my patient?

Patients identified with a hereditary arrhythmia can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include anti-arrhythmic drugs, implantable devices, medical procedures, and surgery. Also, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

Order Options

Sequencing (included)
Del/Dup (included)

 

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 ( 76 genes )

Coverage:

96% at 20x

Specimen Requirements:

Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)

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.

CPT Codes:

CPT Code 81403, 81404, 81405, 81406, 81479

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.

Resources

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

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