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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Test Code: 8910 Test Name: CardioNext TAT 4-5 weeks Genes: 84
Test Code: 8911 Test Name: CardioNext and TTN TAT 4-5 weeks Genes: 85

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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:

  1. Clarify diagnosis and risk for sudden cardiac arrest
  2. Target medical management and prevention of cardiac arrest and other complications
  3. Adjust management in those with cardiomyopathy due to a specific cardiac genotype, or underlying conditions like Duchenne muscular dystrophy and Danon disease
  4. May identify the cause of a sudden unexplained death after a normal autopsy
  5. Offer family members genetic testing (for a familial mutation) and implement medical surveillance to only those that need it
  6. Reduce healthcare costs, resources, and anxiety for families

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).

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. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio 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 for available genes is performed utilizing a targeted chromosomal microarray (for all genes except TBX1 and TXNRD2).

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