HCMFirst / HCMNext

HCMFirst:
HCMFirst is a multi-gene panels 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. HCMFirst includes two genes most commonly associated with inherited HCM. Up to 50% of all patients with HCM have a mutation in one of these two genes.

HCMNext:
HCMNext is a multi-gene panels 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 27 genes that cause HCM. These genes are implicated in over 80% of known genetic causes of HCM.

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Quick Reference
Test Code: 8883 Test Name: HCMNext Reflex TAT 4-5 weeks Genes: 27
Test Code: 8935 Test Name: HCMFirst TAT 14-21 days Genes: 2
Test Code: 8936 Test Name: HCMNext TAT 4-5 weeks Genes: 27

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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. Confirm diagnosis and identify inherited mutation following a sudden death with autopsy findings that indicate HCM
  4. Adjust management in those with HCM due to conditions like Danon and Fabry diseases
  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

  • 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

Up to 50% of all patients with HCM have a mutation in one of the HCMFirst genes, which represents about 80% of known genetic causes of HCM (clinical sensitivity).  An additional 10% of patients with HCM have a mutation in one of the HCMNext genes (clinical sensitivity).  HCMFirst and HCMNext will find >99% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

HCMFirst includes two genes most commonly associated with inherited HCM: MYBPC3 and MYH7. HCMNext includes 27 genes that cause HCM: ACTC1, ACTN2, ANKRD1, CSRP3, FXN, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, RAF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR and VCL. These genes are also included in the comprehensive inherited cardiomyopathy (CMNext) and cardiovascular genetics (CardioNext) panels. 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. Suspect variant calls are verified by Sanger sequencing.1 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 all 27 genes is performed utilizing a targeted chromosomal microarray. 

 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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