Cardiomyopathy Panel

SEQmethod-seq-icon Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq™ and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. DEL/DUPmethod-dup-icon Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes. Results in 21 days. PLUSmethod-plus-icon Plus Analysis combines Sequence + Del/Dup (CNV) Analysis providing increased diagnostic yield in certain clinical conditions, where the underlying genetic defect may be detectable by either of the analysis methods. Results in 21 days.

Test code: CA1201

The Blueprint Genetics Cardiomyopathy Panel is a 134-gene test for genetic diagnostics of patients with clinical suspicion of atypical or complex cardiomyopathy phenotypes. It is also an optimal tool for childhood-onset cardiomyopathies. The Panel covers genetics of arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular non-compaction cardiomyopathy (LVNC), RCM, Noonan syndrome, and several other disorders that may manifest cardiomyopathy in childhood.

In majority of the cases cardiomyopathies are inherited in an autosomal dominant manner. In rare instances, this condition is inherited in an autosomal recessive pattern. In other rare cases, cardiomyopathies can be inherited in an X-linked pattern. Establishing genetic diagnosis confirms or modifies the clinical diagnosis and enables disease specific estimates on prognostics and treatment paths. Genetic diagnosis enables effective family member risk stratification and preventive measures for the mutation carriers. The Cardiomyopathy Panel is included in the Comprehensive CArdiology Panel. The Cardiology Panle includes the Hypertrophic Cardiomyopathy Panel, Dilated Cardiomyopathy Panel, ARC Panel and Noonan Syndrome Panel.

About Cardiomyopathy

Cardiomyopathies are a group of severe cardiac diseases with strong genetic background. Cardiomyopathies are all associated with significantly increased risk of heart failure and sudden cardiac death. According to the European Society of Cardiology (ESC) classification (Charron et al. 2010), cardiomyopathies can be divided into five subgroups according to structural and functional changes at myocardium: 1) hypertrophic cardiomyopathy (HCM), 2) dilated cardiomyopathy (DCM), 3) arrhythmogenic right ventricular cardiomyopathy (ARVC), 4) restrictive cardiomyopathy (RCM) and 5) non-classified cardiomyopathies such as isolated left ventricular non-compaction cardiomyopathy (LVNC). Until today, more than 3,500 cardiomyopathy mutations have been characterized from more than 130 genes. These genes encode proteins constituting structure of sarcomere, cytoskeleton, desmosome, ion channels or nuclear lamina, and proteins participating in Ca2+ handling during contraction phase of action potential or affecting cardiac energy metabolism. In addition, there are several disorders that may manifest congenital or early childhood-onset cardiomyopathty.

Availability

Results in 3-4 weeks.

Genes in the Cardiomyopathy Panel and their clinical significance
GeneAssociated phenotypesInheritanceClinVarHGMD
A2ML1Noonan syndromeAD/AR112
AARS2Leukoencephalopathy, progressive, with ovarian failureAR1316
ABCC9Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)AD1831
ACAD9Acyl-CoA dehydrogenase family, deficiencyAR2140
ACADVLAcyl-CoA dehydrogenase, very long chain, deficiencyAR53260
ACTA1MyopathyAD/AR34201
ACTC1Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM)AD2338
ACTN2Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD1015
AGK*Sengers syndromeAR1619
AGLGlycogen storage diseaseAR37237
ALPK3Pediatric cardiomyopathyAD/AR4
ANKRD1Familial dilated cardiomyopathyAD/AR219
ANO5Gnathodiaphyseal dysplasiaAR42106
APOA1Amyloidosis, systemic nonneuronopathic, HypoalphalipoproteinemiaAD/AR2675
BAG3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD2148
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD9461
CAPN3Muscular dystrophy, limb-girdle, Eosinophilic myositisAR102400
CASQ2Ventricular tachycardia, catecholaminergic, polymorphicAR1730
CAV3Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndromeAD/Digenic2347
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2433
CHKBMuscular dystrophy, congenital, megaconialAR522
COX15Leigh syndrome, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyAR65
CPT1ACarnitine palmitoyltransferase deficiencyAR3443
CPT2Carnitine palmitoyltransferase II deficiencyAR36102
CRYABCataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD1425
CSRP3Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD515
CTNNA3Arrhythmogenic right ventricular dysplasiaAD539
DAG1Muscular dystrophy-dystroglycanopathyAR511
DBHDopamine beta-hydroxylase deficiencyAR1026
DESDilated cardiomyopathy (DCM), Myopathy, myofibrillarAD/AR5195
DMDBecker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy (DCM)XL4893390
DNAJC193-methylglutaconic aciduriaAR43
DSC2Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasiaAD/AR1666
DSG2Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)AD32102
DSPCardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratodermaAD/AR101195
DYSFMiyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onsetAD/AR145507
EMDEmery-Dreifuss muscular dystrophyXL28111
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR728
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR713
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR36168
EYA4Dilated cardiomyopathy (DCM)AD822
FBXO32Dilated cardiomyopathy (DCM)AD/AR2
FHL1*Myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, Reducing bod myopathyXL1847
FKRPMuscular dystrophy-dystroglycanopathyAR3199
FKTNMuscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle)AD/AR2851
FLNC*MyopathyAD1051
FOXRED1Leigh syndrome, Mitochondrial complex I deficiencyAR107
FXN*Friedreich ataxiaAR1165
GAAGlycogen storage diseaseAR79503
GATAD1Dilated cardiomyopathy (DCM)AR111
GBE1Glycogen storage diseaseAR2569
GFM1Combined oxidative phosphorylation deficiencyAR1517
GLAFabry diseaseXL191885
GLB1GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)AR53211
GMPPBMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Limb-girdle muscular dystrophy-dystroglycanopathyAR1326
GNEInclusion body myopathy, Nonaka myopathy, SialuriaAD/AR32193
GUSB*MucopolysaccharidosisAR2463
HCN4Sick sinus syndrome, Brugada syndromeAD724
HFEHemochromatosisAR/Digenic753
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD3026
ISPDMuscular dystrophy-dystroglycanopathyAR2042
JPH2Hypertrophic cardiomyopathy (HCM)AD410
JUPArrhythmogenic right ventricular dysplasia, Naxos diseaseAD/AR1028
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD4638
LAMA2Muscular dystrophy, congenital merosin-deficient, SchizophreniaAD/AR72225
LAMP2Danon diseaseXL4681
LARGEMuscular dystrophy-dystroglycanopathyAR1522
LDB3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD1011
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan ), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM)AD/AR183458
LZTR1Schwannomatosis, Noonan syndromeAD1260
MAP2K1Cardiofaciocutaneous syndromeAD1418
MAP2K2Cardiofaciocutaneous syndromeAD1432
MTO1Combined oxidative phosphorylation deficiencyAR410
MYBPC3Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR390707
MYH6Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD961
MYH7Hypertrophic cardiomyopathy (HCM), Myopathy, myosin storage, Myopathy, distal, Dilated cardiomyopathy (DCM)AD/AR285748
MYL2Hypertrophic cardiomyopathy (HCM)AD2039
MYL3Hypertrophic cardiomyopathy (HCM)AD/AR1224
MYOTMyopathy, myofibrillarAD813
MYPNHypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM)AD426
NEXNHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD616
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD2612607
NRASNoonan syndromeAD178
NSUN2Dubowitz syndrome, Non-syndromic intellectual disabilityAD/AR57
PKP2*Arrhythmogenic right ventricular dysplasiaAD94229
PLECMuscular dystrophy, limb-girdle, Epidermolysis bullosaAR2084
PLEKHM2Dilated cardiomyopathy (DCM), left ventricular noncompactionAD/AR11
PLNHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR821
PNPLA2Neutral lipid storage disease with myopathyAR1143
POMGNT1Muscular dystrophy-dystroglycanopathyAR5573
POMT1Muscular dystrophy-dystroglycanopathyAR3181
POMT2Muscular dystrophy-dystroglycanopathyAR2848
PRDM16Left ventricular noncompaction, Dilated cardiomyopathy (DCM)AD1711
PRKAG2Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndromeAD1624
PTPN11LEOPARD syndrome, Noonan syndromeAD122129
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD3742
RASA2Noonan syndromeAD/AR13
RBM20Dilated cardiomyopathy (DCM)AD1322
RIT1Noonan syndromeAD2020
RRASNoonan-syndrome like phenotypeAD/AR2
RYR2Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasiaAD114287
SCN5AHeart block, nonprogressive, Heart block, progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated cardiomyopathy (DCM)AD/AR/Digenic193795
SCNN1BLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAR/Digenic (with CFTR or other SCCN1 genes)1344
SCNN1GLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAR/Digenic (with CFTR or other SCCN1 genes)520
SCO2Leigh syndrome, Hypertrophic cardiomyopathy (HCM), Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, MyopiaAD/AR1732
SDHA*Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Gastrointestinal stromal tumor, Paragangliomas, Dilated cardiomyopathy (DCM)AD/AR2339
SELENONMuscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportionAR1650
SGCAMuscular dystrophy, limb-girdleAR2589
SGCBMuscular dystrophy, limb-girdleAR1556
SGCDMuscular dystrophy, limb-girdle, Dilated cardiomyopathy (DCM)AR1219
SGCGMuscular dystrophy, limb-girdleAR1855
SHOC2Noonan-like syndrome with loose anagen hairAD13
SLC22A5Carnitine deficiency, systemic primaryAR58118
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR1213
SLC25A20Carnitine-acylcarnitine translocase deficiencyAR1241
SMCHD1Facioscapulohumeral muscular dystrophyDigenic (involving a SMCHD1 mutation and permissive D4Z4 haplotype)1647
SOS1Noonan syndromeAD4166
SPRED1Legius syndromeAD1271
TAZ3-Methylglutaconic aciduria, (Barth syndrome)XL35146
TCAPMuscular dystrophy, limb-girdle, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR1024
TGFB3Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasiaAD818
TMEM43Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophyAD515
TMEM70Mitochondrial complex V (ATP synthase) deficiencyAR918
TNNC1Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD917
TNNI3Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM)AD/AR5592
TNNT2Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM)AD56114
TPM1Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD3662
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdleAR715
TSFMCombined oxidative phosphorylation deficiencyAR55
TTN*Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD437226
TTRDystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-relatedAD51138
VCLHypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD1219
VCPAmyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth diseaseAD1548
XKMcLeod syndromeXL937
  • * Some regions of the gene are duplicated in the genome leading to limited sensitivity within the regions. Thus, low-quality variants are filtered out from the duplicated regions and only high-quality variants confirmed by other methods are reported out. Read more.

Gene, refers to HGNC approved gene symbol; Inheritance to inheritance patterns such as autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL); ClinVar, refers to a number of variants in the gene classified as pathogenic or likely pathogenic in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/); HGMD, refers to a number of variants with possible disease association in the gene listed in Human Gene Mutation Database (HGMD, http://www.hgmd.cf.ac.uk/ac/). The list of associated (gene specific) phenotypes are generated from CDG (http://research.nhgri.nih.gov/CGD/) or Orphanet (http://www.orpha.net/) databases.

Blueprint Genetics offers a comprehensive cardiomyopathy panel that covers classical genes associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), cardiomegaly, cardiomyopathy NAS, dilated cardiomyopathy (DCM), endocardial fibroelastosis, hypertrophic cardiomyopathy (HCM), left ventricular non-compaction cardiomyopathy (LVNC), Noonan syndrome, RCM and unspecified arrhythmia. The genes are carefully selected based on the existing scientific evidence, our experience and most current mutation databases. Candidate genes are excluded from this first-line diagnostic test. The test does not recognise balanced translocations or complex inversions, and it may not detect low-level mosaicism. The test should not be used for analysis of sequence repeats or for diagnosis of disorders caused by mutations in the mitochondrial DNA.

Please see our latest validation report showing sensitivity and specificity for SNPs and indels, sequencing depth, % of the nucleotides reached at least 15x coverage etc. If the Panel is not present in the report, data will be published when the Panel becomes available for ordering. Analytical validation is a continuous process at Blueprint Genetics. Our mission is to improve the quality of the sequencing process and each modification is followed by our standardized validation process. All the Panels available for ordering have sensitivity and specificity higher than > 0.99 to detect single nucleotide polymorphisms and a high sensitivity for indels ranging 1-19 bp. The diagnostic yield varies substantially depending on the used assay, referring healthcare professional, hospital and country. Blueprint Genetics’ Plus Analysis (Seq+Del/Dup) maximizes the chance to find molecular genetic diagnosis for your patient although Sequence Analysis or Del/Dup Analysis may be cost-effective first line test if your patient’s phenotype is suggestive for a specific mutation profile. Detection limit for Del/Dup analysis varies through the genome from one to six exon Del/Dups depending on exon size, sequencing coverage and sequence content.

The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. The highest relevance in the reported variants is achieved through elimination of false positive findings based on variability data for thousands of publicly available human reference sequences and validation against our in-house curated mutation database as well as the most current and relevant human mutation databases. Reference databases currently used are the 1000 Genomes Project (http://www.1000genomes.org), the NHLBI GO Exome Sequencing Project (ESP; http://evs.gs.washington.edu/EVS), the Exome Aggregation Consortium (ExAC; http://exac.broadinstitute.org), ClinVar database of genotype-phenotype associations (http://www.ncbi.nlm.nih.gov/clinvar) and the Human Gene Mutation Database (http://www.hgmd.cf.ac.uk). The consequence of variants in coding and splice regions are estimated using the following in silico variant prediction tools: SIFT (http://sift.jcvi.org), Polyphen (http://genetics.bwh.harvard.edu/pph2/), and Mutation Taster (http://www.mutationtaster.org).

Through our online ordering and statement reporting system, Nucleus, the customer can access specific details of the analysis of the patient. This includes coverage and quality specifications and other relevant information on the analysis. This represents our mission to build fully transparent diagnostics where the customer gains easy access to crucial details of the analysis process.

In addition to our cutting-edge patented sequencing technology and proprietary bioinformatics pipeline, we also provide the customers with the best-informed clinical report on the market. Clinical interpretation requires fundamental clinical and genetic understanding. At Blueprint Genetics our geneticists and clinicians, who together evaluate the results from the sequence analysis pipeline in the context of phenotype information provided in the requisition form, prepare the clinical statement. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals, even without training in genetics.

Variants reported in the statement are always classified using the Blueprint Genetics Variant Classification Scheme modified from the ACMG guidelines (Richards et al. 2015), which has been developed by evaluating existing literature, databases and with thousands of clinical cases analyzed in our laboratory. Variant classification forms the corner stone of clinical interpretation and following patient management decisions. Our statement also includes allele frequencies in reference populations and in silico predictions. We also provide PubMed IDs to the articles or submission numbers to public databases that have been used in the interpretation of the detected variants. In our conclusion, we summarize all the existing information and provide our rationale for the classification of the variant.

A final component of the analysis is the Sanger confirmation of the variants classified as likely pathogenic or pathogenic. This does not only bring confidence to the results obtained by our NGS solution but establishes the mutation specific test for family members. Sanger sequencing is also used occasionally with other variants reported in the statement. In the case of variant of uncertain significance (VUS) we do not recommend risk stratification based on the genetic finding. Furthermore, in the case VUS we do not recommend use of genetic information in patient management or genetic counseling. For some cases Blueprint Genetics offers a special free of charge service to investigate the role of identified VUS.

We constantly follow genetic literature adapting new relevant information and findings to our diagnostics. Relevant novel discoveries can be rapidly translated and adopted into our diagnostics without delay. These processes ensure that our diagnostic panels and clinical statements remain the most up-to-date on the market.

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ICD & CPT codes

CPT codes

SEQ81479
DEL/DUP81479


ICD codes

Commonly used ICD-10 codes when ordering the Cardiomyopathy Panel

ICD-10Disease
I42.5RCM
I42.9Cardiomyopathy NAS
Q87.1Noonan syndrome
I42.2Hypertrophic cardiomyopathy (HCM)
I42.0Dilated cardiomyopathy (DCM)
I42.8Arrhythmogenic right ventricular cardiomyopathy (ARVC)
I42.8Left ventricular non-compaction cardiomyopathy (LVNC)

Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.