With CustomNext-Cardio, you can choose from up to 167 genes associated with heritable cardiovascular and lipid disorders to create a customized panel that best fits your patient’s needs.
CustomNext-Cardio is a customizable screen of up to 167 genes associated with inherited cardiovascular diseases. 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. 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. Gross deletion/duplication analysis is performed for all genes (excluding CBS and TNXB exons 32-44) 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 reported.1 Exon-level resolution may not be achieved for every gene.
1. Morales et al. Circ Genom Precis Med. 2020 Apr; 12(2).
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 or aortic aneurysms/dissections
- Target medical management and prevention of cardiac arrest, aortic aneurysms/dissections, 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
CustomNext-Cardio is a customizable screen of up to 167 genes associated with inherited cardiovascular diseases. 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. 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. Gross deletion/duplication analysis is performed 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 reported.1 Exon-level resolution may not be achieved for every gene.
1. Morales et al. Circ Genom Precis Med. 2020 Apr; 12(2).
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