Sudden Cardiac Arrest Arrhythmia

Cardiovascular Genetics

Sudden Cardiac Arrest Arrhythmia

Inherited arrhythmias can often lead to sudden cardiac death. This panel analyzes 14 genes associated with arrhythmias and can be an effective way of confirming a diagnosis. At-risk individuals are identified with vital information aiding in management and intervention options for both the patient and their family.

Price: $600.00

Test Details

Inherited arrhythmias can often lead to sudden cardiac death. This panel analyzes 14 genes associated with arrhythmias and can be an effective way of confirming a diagnosis. At-risk individuals are identified with vital information aiding in management and intervention options for both the patient and their family.

14 Genes

ANK2, CALM1, CALM2, CALM3, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, PPA2, RYR2, SCN5A

  • Brugada Syndrome
  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
  • Dilated Cardiomyopathy (DCM)
  • Long QT Syndrome (LQTS)
  • Short QT Syndrome (SQTS)
  • Sudden Cardiac Arrest
    Sudden Unexplained Death
  • Genetic diagnosis in sudden unexplained death
  • Recurrence risk information for family members
  • Next-Generation  Sequencing
  • Deletion/Duplication Analysis
  • Pathogenic and Likely Pathogenic Variants Confirmed With Sanger Sequencing
  • Coverage: 96% at 20X

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.

Buccal Swab

3 – 5 weeks