DCMNext is a targeted panel for patients with dilated cardiomyopathy (DCM) and Left Ventricular Non-Compaction (LVNC). Often, DCM can be asymptomatic and sudden death is the first and only symptom. Therefore, genetic testing may be the most effective way of identifying at-risk individuals or confirming a diagnosis.
DCMNext is a comprehensive analysis of 37 genes associated with DCM and LVNC. 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 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
- Target medical management and prevention of cardiac arrest and other complications
- Adjust management in those with DCM due to a specific cardiac genotype, or underlying conditions like Duchenne muscular dystrophy and Danon disease
- Confirm diagnosis and identify inherited mutation following a sudden death with autopsy findings that indicate DCM.
- 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
DCMNext is a comprehensive analysis of 37 genes associated with DCM and LVNC. 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 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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