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CardioNext®

Test Description

CardioNext® 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. 

Why Is This Important?

Knowing if your patient has a hereditary cardiovascular disorder can help you determine their future cardiovascular disease risks and guide your medical management recommendations.

Key benefits include:

  • 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

Test Method

CardioNext® is a comprehensive analysis of 92 genes associated with inherited cardiomyopathies, arrhythmias, and other cardiovascular conditions. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology 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, and is followed by polymerase chain reaction (PCR) and Next-Generation sequencing. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds 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 is performed for all genes using a custom pipeline based on read-depth from NGS data followed by a confirmatory orthogonal method, as needed. For TTN, only truncating variants are routinely reported1. Exon-level resolution may not be achieved for every gene.

The CardioNext® test is designed and validated to be capable of detecting >99% of described mutations in the genes represented on the tests (analytical sensitivity). The clinical sensitivity of the CardioNext® test may vary widely according to the specific clinical and family history. 

1Morales et al. Circ Genom Precis Med. 2020 Apr; 12(2).

© 2023 Ambry Genetics. All Rights Reserved.

Ordering Information

Test Code: 8911

Turnaround time: 14 – 21 working days, upon sample receipt

No. of Genes: 20 (ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GATAD1, GLA, GPD1L, HCN4, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, NKX2-5, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, SOS1, TAZ, TBX20, TBX5, TCAP, TECRL, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL)

Accepted Specimens:

  • Blood
  • Saliva

Collection Kit:

Refer to Specimen Requirements for more information.

Forms & Paperwork

Patient Consent Form

Test Requisition Form

References & Materials

CardioNext Genes and Associated Diseases

Patient Guide

Cardiogenetics Reference Guide

Supplemental Order Form

Inherited Cardiovascular Diseases Reference Guide

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