Hypertropic Cardiomyopathy (HCM)

Cardiovascular Genetics

Hypertropic Cardiomyopathy (HCM)

Hypertrophic Cardiomyopathy (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.  This panel analyses 86 genes that cause HCM.  These genes make up over 80% of known genetic causes of HCM.

Price: $600.00

Test Details

Hypertrophic Cardiomyopathy (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.  This panel analyses 86 genes that cause HCM.  These genes make up over 80% of known genetic causes of HCM.

86 Genes

A2ML1, ABCC9, ACADVL, ACTC1, ACTN2, AGL, ANKRD1, BAG3, BRAF, CACNA1C, CALR3, CAV3, CBL, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, FHL1, FKTN, FLNC, FXN, GAA, GATA4, GATAD1, GLA, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NF1, NRAS, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RASA1, RBM20, RIT1, RRAS, RYR2, SCN5A, SGCD, SHOC2, SOS1, SOS2, SPRED1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

  • Danon Disease
  • Fabry Disease
  • Hypertrophic Cardiomyopathy (HCM)
  • Noonan Syndrome
  • Pompe Disease
  • Transthyretin Amyloidosis
  • Wolff-Parkinson-White Syndrome
  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM
  • Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies (i.e. Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis)
  • Next-Generation Sequencing
  • Deletion/Duplication Analysis

 

All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

FXN: Only sequence variants and copy number changes in this gene are tested. Repeat expansion testing may be warranted if the clinical presentation of this patient is specific for a condition associated with this gene. The current testing method does not assess trinucleotide repeat expansions in this gene.

Buccal swab

3 – 5 weeks

  1. Beckmann, B.M., Pfeufer, A., & Kääb, S. Inherited cardiac arrhythmias: diagnosis, treatment, and prevention. Dtsch Arztebl Int. 2011 Sep;108(37):623-33 (2011)
  2. Cirino, A.L., Ho, C. Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2014 Jan 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle (1993-2017)