CardioNext

CardioNextTM is a targeted panel for patients with inherited cardiomyopathies and arrhythmias, and other inherited cardiovascular conditions. Given the genetic and clinical overlap between these conditions, one comprehensive inherited cardiovascular test may be the most effective way of identifying at-risk individuals, or confirming a diagnosis. 

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CardioNextTM is a targeted panel for patients with inherited cardiomyopathies and arrhythmias, and other inherited cardiovascular conditions. Given the genetic and clinical overlap between these conditions, one comprehensive inherited cardiovascular test may be the most effective way of identifying at-risk individuals, or confirming a diagnosis. 

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CardioNext is a next generation sequencing (NGS) and deletion/duplication panel of 85 genes associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular dysplasia (ARVD), left ventricular non-compaction (LVNC), restrictive cardiomyopathy, long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome. This panel also includes genes that cause cardiomyopathy that is associated with inherited muscular dystrophies, as well as some genes associated with congenital heart defects.

 

Genes Included in CardioNext

84 genes on cardionext genetic testing panel for cardiovascular diseases

 

Including the TTN Gene is Optional
Clinicians may also include the TTN gene in CardioNext. TTN mutations account for up to 20% of all inherited DCM. However, the role of TTN in other forms of cardiomyopathy remains unclear. TTN is a very large gene, thus TTN testing is more likely than other genes to identify variants of uncertain significance (VUS), which may or may not contribute to the cardiomyopathy in a patient.

 

Disease Name 
Arrhythmogenic right ventricular dysplasia (ARVD)
Brugada syndrome (BrS)
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Congenital heart defects
Dilated cardiomyopathy (DCM)
Hypertrophic cardiomyopathy (HCM)
Left ventricular non-compaction (LVNC)
Long QT syndrome (LQTS)
Restrictive cardiomyopathy
Short QT syndrome (SQTS)
Testing Benefits & Indication 
  • Clarify diagnosis and risk for sudden cardiac arrest
  • Target medical management and prevention of cardiac arrest and other complications
  • Adjust management in those with cardiomyopathy due to a specific cardiac genotype, or underlying conditions like Duchenne muscular dystrophy and Danon disease
  • May identify the cause of a sudden unexplained death after a normal autopsy
  • Offer family members genetic testing (for a familial mutation) and implement medical surveillance to only those that need it
  • Reduce healthcare costs, resources, and anxiety for families
Test Description 

CardioNext includes 85 genes (listed above) that cause inherited cardiomyopathies, inherited arrhythmias, and other inherited cardiovascular conditions. Clinicians must choose whether or not to include TTN.  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS. Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Suspect variant calls are verified by Sanger sequencing.  This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis for available genes is performed utilizing a targeted chromosomal microarray (for all genes except TBX1 and TXNRD2).

Mutation Detection Rate 

~65% of patients with LQTS; 50% of patients with HCM, ARVD or CPVT; 30% of patients with non-ischemic DCM; and 15-30% of patients with BrS have a mutation in one of the CardioNext genes (clinical sensitivity).  CardioNext can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Specimen Requirements 

Complete specimen requirements are available here or by downloading the PDF found above on this page.

Turnaround Time 
TEST CODE TEST NAME TURNAROUND TIME (Weeks)
8910 CardioNextTM 4-5
8911 CardioNext + TTN 4-5 
9520 CustomNext-Cardio
Up to 85 cardiovascular genes of your choice
4-5 weeks

 

Specialty 
Genes 
ABCC9
ACTC1
ACTN2
AKAP9
ANKRD1
ANK2
BAG3
CACNA1C
CACNA2D1
CACNB2
CALM1
CASQ2
CAV3
CRYAB
CSRP3
DES
DMD
DSC2
DSG2
DSP
EMD
EYA4
FKTN
FXN
GATAD1
GATA4
GLA
GPD1L
HCN4
JAG1
JPH2
JUP
KCND3
KCNE1
KCNE2
KCNE3
KCNH2
KCNJ2
KCNJ5
KCNJ8
KCNQ1
LAMA4
LAMP2
LDB3/ZASP
LMNA
MYBPC3
MYH6
MYH7
MYL2
MYL3
MYPN
MYOZ2
NEXN
NKX2.5
PKP2
PLN
PRKAG2
PTPN11
RAF1
RBM20
RYR2
SCN1B
SCN2B
SCN3B
SCN4B
SCN5A
SNTA1
TAZ
TBX1
TBX5
TBX20
TCAP
TGFB3
TMEM43
TMPO
TNNC1
TNNI3
TNNT2
TPM1
TRDN
TRPM4
TTN
TTR
TXNRD2
VCL
Tests 
References 

1. Adapted from Ackerman MJ et al. HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. Heart Rhythm. 2011 Aug;8(8):1308-39. 

2. Cirino AL, Ho C. Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2014 Jan 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. 

3. Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2013 May 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. 

4. McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. 2005 Apr 18 [Updated 2014 Jan 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.

5. Alders M, Mannens MMAM. Romano-Ward Syndrome. 2003 Feb 20 [Updated 2012 May 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. 

6. Brugada R, Campuzano O, Brugada P et al. Brugada Syndrome. 2005 Mar 31 [Updated 2014 Apr 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. 

7. Napolitano C, Priori SG, Bloise R. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [Updated 2014 Mar 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. 

8. Brodt C et al. Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy. J Card Fail. 2013. Apr;19(4):233-9.