Comprehensive Cardiology Panel

PLUSbpg-method 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 3–4 weeks. SEQbpg-method 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 3–4 weeks. DEL/DUPbpg-method Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes. Results in 3–4 weeks.

Test code: CA1301

The Blueprint Genetics Comprehensive Cardiology Panel is a 165-gene test that covers the genetics of both channelopathies and cardiomyopathies. It is a combination of our Arrhythmia and Cardiomyopathy Panels, and is a perfect diagnostic test in evaluating sudden cardiac death patients. It can be also used in cases the phenotype is complex and has features of both channelopathy and cardiomyopathy. More specifically it covers diseases such as arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular non-compaction cardiomyopathy (LVNC), long QT syndrome, Noonan syndrome, RCM and short QT syndrome.

Hereditary cardiac diseases share one common feature, an increased risk of sudden cardiac death. These disorders are mainly inherited in an autosomal dominant manner. In rare cases the inheritance is either autosomal recessive or X-linked. In these diseases genetic diagnosis can confirm the clinical diagnosis and disease mechanism. Genetic diagnosis can also guide risk assessment and treatment strategies. Identifying the genetc cause enables risk assessment among asymptomatic family members.

About channelopathies and cardiomyopathies

When a person dies suddenly and unexpectedly from a suspected cardiovascular cause, the term sudden cardiac death (SCD) is used to classify the mortal event. SCD is frequently caused by an abrupt change in heart rhythm (arrhythmia), most often ventricular tachycardia or ventricular fibrillation that impairs cardiac pumping, thereby depriving vital organs of oxygenated blood. A brief episode of VT or VF may cause only momentary loss of consciousness (syncope), but death is the inevitable result of sustained VF in the absence of emergent medical care. Typical genetic defects are detected in genes associated with channelopathies and cardiomyopathies. Differential diagnostics between ion channel disease and cardiomyopathies can be occasionally challenging as severe ventricular arrhythmias can manifest in cardiomyopathy patients with subclinical or no morphological cardiomyopathy.

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

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Genes in the Comprehensive Cardiology 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 13 16
ABCB4 Gallbladder disease, Low phospholipid-associated cholelithiasis, Cholestasis AD/AR 16 202
ABCC9 Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM) AD 18 31
ACAD9 Acyl-CoA dehydrogenase family, deficiency AR 21 40
ACADVL Acyl-CoA dehydrogenase, very long chain, deficiency AR 53 260
ACTA1 Myopathy AD/AR 34 201
ACTA2 Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome AD 21 70
ACTC1 Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM) AD 23 38
ACTN2 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 10 15
AGK* Sengers syndrome AR 16 19
AGL Glycogen storage disease AR 37 237
AKAP9 Long QT syndrome AD 4 19
ALPK3 Pediatric cardiomyopathy AD/AR 4
ANK2 Cardiac arrhythmia, Long QT syndrome AD 9 46
ANKRD1 Familial dilated cardiomyopathy AD/AR 2 19
ANO5 Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies AR 42 106
APOA1 Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia AD/AR 26 75
APOB Hypobetalipoproteinemia, Hypercholesterolemia AD/AR 26 245
BAG3 Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD 21 48
BRAF* LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndrome AD 94 61
CACNA1C* Brugada syndrome, Timothy syndrome AD 16 54
CACNA2D4 Retinal cone dystrophy AR 1 9
CACNB2 Brugada syndrome AD 4 18
CALM1* Ventricular tachycardia, catecholaminergic polymorphic, Recurrent cardiac arrest, infantile, Long QT syndrome AD 5 10
CALM2 Long QT syndrome AD 6 8
CALM3 Catecholaminergic polymorphic ventricular tachycardia AD/AR 3
CAPN3 Muscular dystrophy, limb-girdle, Eosinophilic myositis AR 102 400
CASQ2 Ventricular tachycardia, catecholaminergic, polymorphic AR 17 30
CAV3 Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome AD/Digenic 23 47
CBL Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia AD 24 33
CHKB Muscular dystrophy, congenital, megaconial AR 5 22
COX15 Leigh syndrome, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency AR 6 5
CPT1A Carnitine palmitoyltransferase deficiency AR 34 43
CPT2 Carnitine palmitoyltransferase II deficiency AR 36 102
CRYAB Cataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD 14 25
CSRP3 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 5 15
CTNNA3 Arrhythmogenic right ventricular dysplasia AD 5 39
DAG1 Muscular dystrophy-dystroglycanopathy AR 5 11
DBH Dopamine beta-hydroxylase deficiency AR 10 26
DES Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD/AR 51 95
DMD Becker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy (DCM) XL 489 3390
DNAJC19 3-methylglutaconic aciduria AR 4 3
DSC2 Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia AD/AR 16 66
DSG2 Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM) AD 32 102
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma AD/AR 101 195
DYSF Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset AR 145 507
EMD Emery-Dreifuss muscular dystrophy XL 28 111
ENPP1 Arterial calcification, Hypophosphatemic rickets AR 17 72
ETFA Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR 7 28
ETFB Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR 7 13
ETFDH Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR 36 168
EYA4 Dilated cardiomyopathy (DCM) AD 8 22
FBXO32 Dilated cardiomyopathy (DCM) AD/AR 2
FHL1* Myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, Reducing bod myopathy XL 18 47
FKRP Muscular dystrophy-dystroglycanopathy AR 31 99
FKTN Muscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle) AD/AR 28 51
FLNC* Myopathy AD 10 51
FOXRED1 Leigh syndrome, Mitochondrial complex I deficiency AR 10 7
FXN* Friedreich ataxia AR 11 65
GAA Glycogen storage disease AR 79 503
GATA5 Familial atrial fibrillation, Tetralogy of Fallot, Single ventricular septal defect AD/AR 27
GATAD1 Dilated cardiomyopathy (DCM) AR 11 1
GBE1 Glycogen storage disease AR 25 69
GFM1 Combined oxidative phosphorylation deficiency AR 15 17
GJA5 Progressive familial heart block, Atrial standstill, digenic, Atrial fibrillation AD/Digenic 7 35
GLA Fabry disease XL 191 885
GLB1 GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome) AR 53 211
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Limb-girdle muscular dystrophy-dystroglycanopathy AR 13 26
GNE Inclusion body myopathy, Nonaka myopathy, Sialuria AD/AR 32 193
GUSB* Mucopolysaccharidosis AR 24 63
HCN4 Sick sinus syndrome, Brugada syndrome AD 7 24
HFE Hemochromatosis AR/Digenic 7 53
HRAS Costello syndrome, Congenital myopathy with excess of muscle spindles AD 30 26
ISPD Muscular dystrophy-dystroglycanopathy AR 20 42
JPH2 Hypertrophic cardiomyopathy (HCM) AD 4 10
JUP Arrhythmogenic right ventricular dysplasia, Naxos disease AD/AR 10 28
KCNA5 Atrial fibrillation AD 4 24
KCND3 Brugada syndrome AD 6 15
KCNE1 Long QT syndrome, Jervell and Lange-Nielsen syndrome AD/AR/Digenic 6 46
KCNE2 Long QT syndrome, Atrial fibrillation, familial AD 6 23
KCNE3 Brugada syndrome AD 1 7
KCNH2 Short QT syndrome, Long QT syndrome AD 275 897
KCNJ2 Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillation AD 34 83
KCNJ5 Long QT syndrome, Hyperaldosteronism, familial AD 7 12
KCNQ1 Short QT syndrome, Long QT syndrome, Atrial fibrillation, Jervell and Lange-Nielsen syndrome AD/AR/Digenic 237 590
KRAS* Noonan syndrome, Cardiofaciocutaneous syndrome AD 46 38
LAMA2 Muscular dystrophy, congenital merosin-deficient, Schizophrenia AD/AR 72 225
LAMP2 Danon disease XL 46 81
LARGE Muscular dystrophy-dystroglycanopathy AR 15 22
LDB3 Dilated cardiomyopathy (DCM), Myopathy, myofibrillar AD 10 11
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 183 458
LZTR1 Schwannomatosis, Noonan syndrome AD 12 60
MAP2K1 Cardiofaciocutaneous syndrome AD 14 18
MAP2K2 Cardiofaciocutaneous syndrome AD 14 32
MTO1 Combined oxidative phosphorylation deficiency AR 4 10
MYBPC3 Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD/AR 390 707
MYH6 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 9 61
MYH7 Hypertrophic cardiomyopathy (HCM), Myopathy, myosin storage, Myopathy, distal, Dilated cardiomyopathy (DCM) AD/AR 285 748
MYL2 Hypertrophic cardiomyopathy (HCM) AD 20 39
MYL3 Hypertrophic cardiomyopathy (HCM) AD/AR 12 24
MYOT Myopathy, myofibrillar AD 8 13
MYPN Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM) AD 4 26
NEXN Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 6 16
NF1* Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndrome AD 261 2607
NKX2-5 Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defect AD 41 101
NOS1AP Romano-Ward syndrome AD/AR 7
NRAS Noonan syndrome AD 17 8
NSUN2 Dubowitz syndrome, Non-syndromic intellectual disability AD/AR 5 7
PKP2* Arrhythmogenic right ventricular dysplasia AD 94 229
PLEC Muscular dystrophy, limb-girdle, Epidermolysis bullosa AR 20 84
PLEKHM2 Dilated cardiomyopathy (DCM), left ventricular noncompaction AD/AR 1 1
PLN Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD/AR 8 21
PNPLA2 Neutral lipid storage disease with myopathy AR 11 43
POMGNT1 Muscular dystrophy-dystroglycanopathy AR 55 73
POMT1 Muscular dystrophy-dystroglycanopathy AR 31 81
POMT2 Muscular dystrophy-dystroglycanopathy AR 28 48
PRDM16 Left ventricular noncompaction, Dilated cardiomyopathy (DCM) AD 17 11
PRKAG2 Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome AD 16 24
PTPN11 LEOPARD syndrome, Noonan syndrome, Metachondromatosis AD 122 129
RAF1 LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM) AD 37 42
RASA2 Noonan syndrome AD/AR 1 3
RBM20 Dilated cardiomyopathy (DCM) AD 13 22
RIT1 Noonan syndrome AD 20 20
RRAS Noonan-syndrome like phenotype AD/AR 2
RYR2 Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasia AD 114 287
SCN1B Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus AD 11 18
SCN3B Atrial fibrillation, familial, Brugada syndrome AD 4 7
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 193 795
SCN10A Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, Primary erythermalgia, Sodium channelopathy-related small fiber neuropathy, Brugada syndrome AD/AR 2 48
SCNN1B Liddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chloride AR/Digenic (with CFTR or other SCCN1 genes) 13 44
SCNN1G Liddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chloride AR/Digenic (with CFTR or other SCCN1 genes) 5 20
SCO2 Leigh syndrome, Hypertrophic cardiomyopathy (HCM), Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Myopia AR 17 32
SDHA* Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Gastrointestinal stromal tumor, Paragangliomas, Dilated cardiomyopathy (DCM) AD/AR 23 39
SELENON Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion AR 16 50
SGCA Muscular dystrophy, limb-girdle AR 25 89
SGCB Muscular dystrophy, limb-girdle AR 15 56
SGCD Muscular dystrophy, limb-girdle, Dilated cardiomyopathy (DCM) AR 12 19
SGCG Muscular dystrophy, limb-girdle AR 18 55
SHOC2 Noonan-like syndrome with loose anagen hair AD 1 3
SLC22A5 Carnitine deficiency, systemic primary AR 58 118
SLC25A4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome AD/AR 12 13
SLC25A20 Carnitine-acylcarnitine translocase deficiency AR 12 41
SMCHD1 Facioscapulohumeral muscular dystrophy Digenic (involving a SMCHD1 mutation and permissive D4Z4 haplotype) 16 47
SOS1 Noonan syndrome AD 41 66
SPRED1 Legius syndrome AD 12 71
TAZ 3-Methylglutaconic aciduria, (Barth syndrome) XL 35 146
TBX5 Holt-Oram syndrome AD 32 119
TCAP Muscular dystrophy, limb-girdle, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD/AR 10 24
TGFB3 Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia AD 8 18
TMEM43 Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy AD 5 15
TMEM70 Mitochondrial complex V (ATP synthase) deficiency AR 9 18
TNNC1 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 9 17
TNNI3 Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM) AD/AR 55 92
TNNT2 Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM) AD 56 114
TPM1 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 36 62
TRDN Ventricular tachycardia, catecholaminergic polymorphic AR 3 6
TRIM32 Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle AR 7 15
TRPM4 Progressive familial heart block AD 4 21
TSFM Combined oxidative phosphorylation deficiency AR 5 5
TTN* Dilated cardiomyopathy (DCM), Tibial muscular dystrophy, Limb-girdle muscular dystrophy AD 437 226
TTR Dystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-related AD 51 138
VCL Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 12 19
VCP Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth disease AD 15 48
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 Comment Reference
KCNQ1 Chr11:2484803 rs2074238

Blueprint Genetics offers a Comprehensive Cardiology Panel that covers classical genes associated with abnormal ECG, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome, cardiac arrest cause unspecified, cardiac arrest underlying cardiac condition, cardiomyopathy NAS, catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular non-compaction cardiomyopathy (LVNC), long QT syndrome, Noonan syndrome, RCM, short QT syndrome and syncope and collapse. 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

SEQ81479
DEL/DUP81479


ICD codes

Commonly used ICD-10 codes when ordering the Comprehensive Cardiology Panel

ICD-10 Disease
Q24.8 Brugada syndrome
I42.5 RCM
I42.9 Cardiomyopathy NAS
Q87.1 Noonan syndrome
I49.9 Catecholaminergic polymorphic ventricular tachycardia (CPVT)
I46.2 Cardiac arrest underlying cardiac condition
I46.9 Cardiac arrest cause unspecified
I45.81 Long QT 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)
I49.9 Short QT syndrome

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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