CustomNext-Cardio

CustomNext-Cardio is a gene sequencing and deletion/duplication panel that analyzes up to 85 genes of your choosing associated with inherited cardiomyopathies and arrhythmias, and other inherited cardiovascular conditions. 

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CustomNext-Cardio is a gene sequencing and deletion/duplication panel that analyzes up to 85 genes of your choosing associated with inherited cardiomyopathies and arrhythmias, and other inherited cardiovascular conditions. 

Ambry utilizes next generation sequencing (NGS) and deletion/duplication analyses (deletion/duplication for all genes except TBX1 and TXNRD2) to offer CustomNext-Cardio, a customizable hereditary cardiovascular panel of up to 85 genes. Gene options for this panel include any combination of genes included in the CardioNext test: 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.

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)
Disease Information 

CustomNext-Cardio Gene Options:

CustomNext-Cardio has 85 genes to choose from including all the 85 genes on the CardioNext panel. For more detailed information about any of these 85 genes and mutation detection rates, click here.

Testing Benefits & Indication 

CustomNext-Cardio may be appropriate to consider in the following situations, combined with clinician discretion:

  • 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
  • Your patient's complex personal and and/or family history requires a unique panel of genes to assess (not found in an existing panel)
  • You/your patient would like to learn about fewer genes than those currently found on existing panels
  • You/your patient would like to learn about more genes than those currently found on existing panels
Test Description 

CustomNext-Cardio analyzes up to 85 genes (listed above) selected by the healthcare provider that cause inherited cardiomyopathies, inherited arrhythmias, and other inherited cardiovascular conditions. All selected genes are evaluated by NGS or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions.   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. Additional 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.  Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all ordered genes (excluding TBX1 and TXNRD2) utilizing a targeted chromosomal microarray.

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 genes found in the CardioNext panel, which includes the same genes as those available for CustomNext-Cardio (clinical sensitivity). CustomNext-Cardio can detect >99.9% of described sequencing and deletion/duplication mutations in the included genes listed above, 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)
9520 CustomNext-Cardio 4-5

 

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
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.