HCMNext is a comprehensive analysis of 30 genes associated with HCM. 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, 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’ endsof 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. Exon-level resolution may not be achieved for every gene.
Hypertrophic Cardiomyopathy Genetic Testing | HCMNext
HCMNext: HCMNext is a multi-gene panel that can be ordered individually or on a reflex basis for patients with hypertrophic cardiomyopathy (HCM). Often, HCM 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. HCMNext includes 30 genes that cause HCM. These genes are implicated in over 80% of known genetic causes of HCM.
Genes analyzed
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
- Confirm diagnosis and identify inherited mutation following a sudden death with autopsy findings that indicate HCM
- Adjust management in those with HCM due to conditions like Danon and Fabry diseases
- 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
When To Consider Testing
- Patient has a family history of cardiomyopathies or a sudden unexplained death
- Patient has a personal or family history of unexplained fainting or passing out
- Patient has a family member with a pacemaker or implantable defibrillator (ICD) device
Mutation Distribution and Detection Rates
Test Description
HCMNext is a comprehensive analysis of 30 genes associated with HCM. 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, 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’ endsof 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. Exon-level resolution may not be achieved for every gene.
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