CustomNext-Cardio

CustomNext-Cardio is a gene sequencing and deletion/duplication panel that analyzes up to 106 genes of your choosing associated with inherited cardiomyopathies and arrhythmias, thoracic aortic aneurysms and dissections (TAAD), and other inherited cardiovascular conditions. 

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Test Code 9520
Turnaround Time (TAT) 4-5 weeks
Number of Genes 106
Specimen Requirements Click here

Ordering Options

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 or aortic aneurysms/dissections
  2. Target medical management and prevention of cardiac arrest, aortic aneurysms/dissections, 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

When To Consider Testing

  • 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

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 are available to order on the CustomNext-Cardio panel (clinical sensitivity). Up to 93% of patients with Marfan syndrome have a mutation in the FBN1 gene. >95% of patients with EDS type IV have a mutation in the COL3A1 gene. 30-40% of patients with familial TAAD have a mutation in one of the genes found on the TAADNext panel, which are available to order on the CustomNext-Cardiopanel (clinical sensitivity). Many of these genes have very recently been identified, so this detection rate may increase as studies continue. CustomNext-Cardio can detect >99.9% of described sequencing and deletion/duplication mutations in the included genes listed above, when present (analytic sensitivity).

Test Description

CustomNext-Cardio analyzes up to 106 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.  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. Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all ordered genes (excluding CBS, COL5A1, FLNA,TBX1 and TXNRD2) utilizing a targeted chromosomal microarray.

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