Panel Description Test Description Resource

Panel Description

Diseases Targeted:
Long QT Syndrome
Brugada Syndrome
Overview:
The Long QT/Brugada Syndrome Panel examines 34 genes associated with hereditary Long QT syndrome (LQTS) and Brugada syndrome.

Who is this test for?
Patients with a personal and/or family history suggestive of LQTS or Brugada syndrome. Long QT syndrome is defined by an increased QT interval on an electrocardiogram (ECG). Brugada syndrome has abnormal ECG findings as well, including broad P wave, J point elevation, coved ST elevation, and inverted T wave. Red flags for LQTS or Brugada syndrome 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 a LQTS or Brugada syndrome gene mutation may never develop symptoms.

What are the potential benefits for my patient?
Patients identified with LQTS or Brugada syndrome can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include beta blockers, implantable devices, and lifestyle changes. 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.

Test Description

Order Options:
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
Turnaround Time:
3-5 weeks
Cost:
Call for details
Genes:
ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, TRDN, TRPM4 ( 34 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.

Resource

– Beckmann, B.M., Pfeufer, A., & Kääb, S. Inherited cardiac arrhythmias: diagnosis, treatment, and prevention. Dtsch Arztebl Int. 2011 Sep;108(37):623-33 (2011)
– Brugada, R., Campuzano O., Sarquella-Brugada, G., et al. Brugada Syndrome. 2005 Mar 31 [Updated 2016 Nov 17]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle (1993-2017)
– Alders, M., Christiaans, I. Long QT Syndrome. 2003 Feb 20 [Updated 2015 Jun 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle (1993-2017)
– Kim, J.B. Channelopathies. Korean J Pediatr. 2014 Jan;57(1):1-18. doi: 10.3345/kjp.2014.57.1.1. (2014)