Cardiomyopathy Panel

  • bpg-method PLUS
  • bpg-method SEQ
  • bpg-method DEL/DUP

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 Panel 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. We do not offer a maternal cell contamination (MCC) test at the moment. We offer prenatal testing only for cases where the maternal cell contamination studies (MCC) are done by a local genetic laboratory. Read more: http://blueprintgenetics.com/faqs/#prenatal

Genes in the Cardiomyopathy Panel and their clinical significance
Gene Associated phenotypes Inheritance ClinVar HGMD
A2ML1 Noonan syndrome AD/AR 1 12
AARS2 Leukoencephalopathy, progressive, with ovarian failure AR 14 26
ABCC9 Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM) AD 24 36
ACAD9 Acyl-CoA dehydrogenase family, deficiency AR 23 42
ACADVL Acyl-CoA dehydrogenase, very long chain, deficiency AR 94 260
ACTA1 Myopathy AD/AR 50 206
ACTC1 Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM) AD 23 54
ACTN2 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 8 31
AGK* Sengers syndrome AR 15 21
AGL Glycogen storage disease AR 82 242
ALPK3 Pediatric cardiomyopathy AR 6 4
ANKRD1 Familial dilated cardiomyopathy AD/AR 2 24
ANO5 Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies AD/AR 49 115
APOA1 Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia AD/AR 26 69
BAG3 Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD 30 50
BRAF* LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndrome AD 131 62
CAPN3 Muscular dystrophy, limb-girdle, Eosinophilic myositis AR 108 427
CASQ2 Ventricular tachycardia, catecholaminergic, polymorphic AR 21 32
CAV3 Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome AD/Digenic 24 48
CBL Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia AD 23 36
CHKB Muscular dystrophy, congenital, megaconial AR 7 23
COX15 Leigh syndrome, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency AR 7 5
CPT1A Carnitine palmitoyltransferase deficiency AR 49 46
CPT2 Carnitine palmitoyltransferase II deficiency AR 47 104
CRYAB Cataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD 16 27
CSRP3 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 5 23
CTNNA3 Arrhythmogenic right ventricular dysplasia AD 6 39
DAG1 Muscular dystrophy-dystroglycanopathy AR 8 10
DBH Dopamine beta-hydroxylase deficiency AR 10 13
DES Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD/AR 57 109
DMD Becker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy (DCM) XL 610 3620
DNAJC19 3-methylglutaconic aciduria AR 3 3
DSC2 Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia AD/AR 23 80
DSG2 Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM) AD 37 117
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma AD/AR 128 262
DYSF Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset AR 155 517
EMD Emery-Dreifuss muscular dystrophy XL 40 112
ETFA Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR 8 27
ETFB Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR 6 14
ETFDH Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR 37 169
EYA4 Dilated cardiomyopathy (DCM) AD 9 24
FBXO32 Dilated cardiomyopathy (DCM) AD/AR 2
FHL1* Myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, Reducing bod myopathy XL 21 59
FKRP Muscular dystrophy-dystroglycanopathy AR 36 114
FKTN Muscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle) AD/AR 34 53
FLNC* Myopathy AD 16 87
FOXRED1 Leigh syndrome, Mitochondrial complex I deficiency AR 12 7
FXN* Friedreich ataxia AR 11 62
GAA Glycogen storage disease AR 136 528
GATAD1 Dilated cardiomyopathy (DCM) AR 21 1
GBE1 Glycogen storage disease AR 30 71
GFM1 Combined oxidative phosphorylation deficiency AR 17 18
GLA Fabry disease XL 188 910
GLB1 GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome) AR 60 212
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Limb-girdle muscular dystrophy-dystroglycanopathy AR 13 29
GNE Inclusion body myopathy, Nonaka myopathy, Sialuria AD/AR 50 200
GUSB* Mucopolysaccharidosis AR 24 61
HCN4 Sick sinus syndrome, Brugada syndrome AD 11 27
HFE Hemochromatosis AR/Digenic 9 53
HRAS Costello syndrome, Congenital myopathy with excess of muscle spindles AD 39 27
ISPD Muscular dystrophy-dystroglycanopathy AR 23 44
JPH2 Hypertrophic cardiomyopathy (HCM) AD 4 10
JUP Arrhythmogenic right ventricular dysplasia, Naxos disease AD/AR 8 38
KRAS* Noonan syndrome, Cardiofaciocutaneous syndrome AD 59 31
LAMA2 Muscular dystrophy, congenital merosin-deficient AR 90 256
LAMP2 Danon disease XL 54 94
LARGE Muscular dystrophy-dystroglycanopathy AR 15 25
LDB3 Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD 9 12
LMNA Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type AD/AR 211 513
LZTR1 Schwannomatosis, Noonan syndrome AD 18 62
MAP2K1 Cardiofaciocutaneous syndrome AD 43 21
MAP2K2 Cardiofaciocutaneous syndrome AD 21 34
MTO1 Combined oxidative phosphorylation deficiency AR 10 13
MYBPC3 Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 423 987
MYH6 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 12 75
MYH7 Hypertrophic cardiomyopathy (HCM), Myopathy, myosin storage, Myopathy, distal, Dilated cardiomyopathy (DCM) AD 289 923
MYL2 Hypertrophic cardiomyopathy (HCM) AD 20 60
MYL3 Hypertrophic cardiomyopathy (HCM) AD/AR 14 37
MYOT Myopathy, myofibrillar AD 8 16
MYPN Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM) AD 6 36
NEXN Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 6 30
NF1* Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndrome AD 592 2681
NRAS Noonan syndrome AD 31 14
NSUN2 Dubowitz syndrome, Non-syndromic intellectual disability AD/AR 8 7
PKP2* Arrhythmogenic right ventricular dysplasia AD 116 269
PLEC Muscular dystrophy, limb-girdle, Epidermolysis bullosa AR 26 91
PLEKHM2 Dilated cardiomyopathy (DCM), left ventricular noncompaction AD/AR 1 1
PLN Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD/AR 8 28
PNPLA2 Neutral lipid storage disease with myopathy AR 11 36
POMGNT1 Muscular dystrophy-dystroglycanopathy AR 76 75
POMT1 Muscular dystrophy-dystroglycanopathy AR 34 85
POMT2 Muscular dystrophy-dystroglycanopathy AR 33 52
PRDM16 Left ventricular noncompaction, Dilated cardiomyopathy (DCM) AD 16 11
PRKAG2 Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome AD 19 53
PTPN11 LEOPARD syndrome, Noonan syndrome, Metachondromatosis AD 124 135
RAF1 LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM) AD 44 43
RASA2 Noonan syndrome AD/AR 1 3
RBM20 Dilated cardiomyopathy (DCM) AD 16 31
RIT1 Noonan syndrome AD 21 24
RRAS Noonan-syndrome like phenotype AD/AR 2
RYR2 Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasia AD 110 329
SCN5A Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated cardiomyopathy (DCM) AD/AR/Digenic 212 819
SCNN1B Liddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chloride AD/AR 14 45
SCNN1G Liddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chloride AD/AR 5 18
SCO2 Leigh syndrome, Hypertrophic cardiomyopathy (HCM), Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Myopia AR 42 33
SDHA* Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Gastrointestinal stromal tumor, Paragangliomas, Dilated cardiomyopathy (DCM) AD/AR 29 51
SELENON Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion AR 27 59
SGCA Muscular dystrophy, limb-girdle AR 40 99
SGCB Muscular dystrophy, limb-girdle AR 22 59
SGCD Muscular dystrophy, limb-girdle, Dilated cardiomyopathy (DCM) AR 14 20
SGCG Muscular dystrophy, limb-girdle AR 19 57
SHOC2 Noonan-like syndrome with loose anagen hair AD 2 4
SLC22A5 Carnitine deficiency, systemic primary AR 76 117
SLC25A4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome AD/AR 12 13
SLC25A20 Carnitine-acylcarnitine translocase deficiency AR 11 41
SMCHD1 Facioscapulohumeral muscular dystrophy Digenic (involving a SMCHD1 mutation and permissive D4Z4 haplotype) 37 71
SOS1 Noonan syndrome AD 45 66
SPRED1 Legius syndrome AD 18 70
TAZ 3-Methylglutaconic aciduria, (Barth syndrome) XL 39 151
TCAP Muscular dystrophy, limb-girdle, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD/AR 10 26
TGFB3 Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia AD 13 19
TMEM43 Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy AD 5 20
TMEM70 Mitochondrial complex V (ATP synthase) deficiency AR 10 18
TNNC1 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 9 20
TNNI3 Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM) AD/AR 55 121
TNNT2 Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM) AD 61 132
TPM1 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 39 90
TRIM32 Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle AR 11 16
TSFM Combined oxidative phosphorylation deficiency AR 7 6
TTN* Dilated cardiomyopathy (DCM), Tibial muscular dystrophy, Limb-girdle muscular dystrophy AD 576 271
TTR Dystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-related AD 50 141
VCL Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 12 24
VCP Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth disease AD 16 54
XK McLeod syndrome XL 9 37

*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.

Gene Genomic location HG19 HGVS RefSeq RS-number
DMD ChrX:33192452 c.31+36947G>A NM_004006.2
DMD ChrX:31983146 c.6614+3310G>T NM_004006.2 rs797045526
DMD ChrX:31627738 c.8217+18052A>G NM_004006.2
DMD ChrX:31279780 c.9225-647A>G NM_004006.2 rs398124091
DMD ChrX:31279781 c.9225-648A>G NM_004006.2 rs398124084
DMD ChrX:32669100 c.961-5831C>T NM_004006.2 rs398124099
DYSF Chr2:71817308 c.3443-33A>G NM_003494.3 rs786205083
DYSF Chr2:71889030 c.4886+1249G>T NM_003494.3
GAA Chr17:78078341 c.-32-13T>G NM_000152.3 rs386834236
GAA Chr17:78078351 c.-32-3C>A NM_000152.3
GAA Chr17:78082266 c.1076-22T>G NM_000152.3 rs762260678
GBE1 Chr3:81542963 c.2053-3358_2053-3350delGTGTGGTGGinsTGTTTTTTACATGACAGGT NM_000158.3
GLA ChrX:100654735 c.640-801G>A NM_000169.2 rs199473684
LMNA Chr1:156100609 c.513+45T>G NM_170707.3
MYBPC3 Chr11:47364832 c.1224-19G>A NM_000256.3 rs587776699
MYBPC3 Chr11:47359371 c.2309-26A>G NM_000256.3
NF1 Chr17:29577934 c.4110+1802delA NM_001042492.2 rs863224944
NF1 Chr17:29657848 c.5812+332A>G NM_001042492.2 rs863224491
TGFB3 Chr14:76425035 c.*495C>T NM_003239.2 rs387906514
TGFB3 Chr14:76447266 c.-30G>A NM_003239.2 rs770828281

The strengths of this test include:

  • Blueprint Genetics is one of the few laboratories worldwide with CAP and ISO-15189 accreditation for NGS panels and CLIA certification
  • Superior sequencing quality
  • Careful selection of genes based on current literature, our experience and the most current mutation databases
  • Transparent and easy access to quality and performance data at the patient level that are accessible via our Nucleus portal
  • Transparent and reproducible analytical validation for each panel (see Test performance section; for complete details, see our Analytic Validation)
  • Sequencing and high resolution del/dup analysis available in one test
  • Inclusion of non-coding disease causing variants where clinically indicated (please see individual Panel descriptions)
  • Interpretation of variants following ACMG variant classification guidelines
  • Comprehensive clinical statement co-written by a PhD geneticist and a clinician specialist

 

This test does not detect the following:

  • Complex inversions
  • Gene conversions
  • Balanced translocations
  • Mitochondrial DNA variants
  • Variants in regulatory or non-coding regions of the gene unless otherwise indicated (please see Non-coding disease causing variants covered by the panel). This mean for instance intronic variants locating deeper than 15 nucleotides from the exon-intron boundary.

 

This test may not reliably detect the following:

  • Low level mosaicism
  • Stretches of mononucleotide repeats
  • Indels larger than 50bp
  • Single exon deletions or duplications
  • Variants within pseudogene regions/duplicated segments
  • Disorders caused by long repetitive sequences (e.g. trinucleotide repeat expansions)

 

The sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics.

For additional information, please refer to the Test performance section and see our Analytic Validation.

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.

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. Average sensitivity and specificity in Blueprint NGS Panels is 99.3% and 99.9% for detecting SNPs. Sensitivity to for indels vary depending on the size of the alteration: 1-10bps (96.0%), 11-20 bps (88.4%) and 21-30 bps (66.7%). The longest detected indel was 46 bps by sequence analysis. Detection limit for Del/Dup (CNV) analysis varies through the genome depending on exon size, sequencing coverage and sequence content. The sensitivity is 71.5% for single exon deletions and duplications and 99% for three exons’ deletions and duplications. We have validated the assays for different starting materials including EDTA-blood, isolated DNA (no FFPE) and saliva that all provide high-quality results. 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.

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

SEQ 81479
DEL/DUP 81479


ICD codes

Commonly used ICD-10 codes when ordering the Cardiomyopathy Panel

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

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