Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources

Panel Description

Arrhythmogenic Right Ventricular Cardiomyopathy
The Arrhythmogenic Right Ventricular Cardiomyopathy Panel examines 46 genes associated with hereditary arrhythmogenic right ventricular cardiomyopathy (ARVC).

Patients with a personal and/or family history suggestive of ARVC. ARVC is defined by cardiomyopathy that primarily affects the right ventricle and includes ventricular arrhythmias. The structures connecting the heart muscles cells together (desmosomes) are abnormal in patients with ARVC. Red flags for ARVC can include, but are not limited to, dizziness, lightheadedness, fainting, heart failure, or sudden cardiac death.

Patients identified with ARVC can benefit from increased surveillance and preventative steps to better manage their risks. Therapeutic options consist of lifestyle changes, pharmacological treatment, catheter ablation, implantable devices, and heart transplantation. 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

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3 - 5 weeks
Call for details
ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, NKX2-5, PDLIM3, PKP2, PLN, PRKAG2, RANGRF, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43, TNNI3, TNNT2, TTN ( 46 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
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 Code 81413, 81414

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)
 - McNally, E., MacLeod, H., Dellefave-Castillo, L. Arrhythmogenic Right Ventricular Cardiomyopathy. 2005 Apr 18 [Updated 2017 May 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle (1993-2017)