Comprehensive Cardiology 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: 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.

Genes in the Comprehensive Cardiology Panel and their clinical significance
GeneAssociated phenotypesInheritanceClinVarHGMD
A2ML1Noonan syndromeAD/AR112
AARS2Leukoencephalopathy, progressive, with ovarian failureAR1316
ABCB4Gallbladder disease, Low phospholipid-associated cholelithiasis, CholestasisAD/AR16202
ABCC9Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)AD1831
ACAD9Acyl-CoA dehydrogenase family, deficiencyAR2140
ACADVLAcyl-CoA dehydrogenase, very long chain, deficiencyAR53260
ACTA1MyopathyAD/AR34201
ACTA2Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndromeAD2170
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
AKAP9Long QT syndromeAD419
ALPK3Pediatric cardiomyopathyAD/AR4
ANK2Cardiac arrhythmia, Long QT syndromeAD946
ANKRD1Familial dilated cardiomyopathyAD/AR219
ANO5Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophiesAR42106
APOA1Amyloidosis, systemic nonneuronopathic, HypoalphalipoproteinemiaAD/AR2675
APOBHypobetalipoproteinemia, HypercholesterolemiaAD/AR26245
BAG3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD2148
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD9461
CACNA1C*Brugada syndrome, Timothy syndromeAD1654
CACNA2D4Retinal cone dystrophyAR19
CACNB2Brugada syndromeAD418
CALM1*Ventricular tachycardia, catecholaminergic polymorphic, Recurrent cardiac arrest, infantile, Long QT syndromeAD510
CALM2Long QT syndromeAD68
CALM3Catecholaminergic polymorphic ventricular tachycardiaAD/AR3
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 onsetAR145507
EMDEmery-Dreifuss muscular dystrophyXL28111
ENPP1Arterial calcification, Hypophosphatemic ricketsAR1772
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
GATA5Familial atrial fibrillation, Tetralogy of Fallot, Single ventricular septal defectAD/AR27
GATAD1Dilated cardiomyopathy (DCM)AR111
GBE1Glycogen storage diseaseAR2569
GFM1Combined oxidative phosphorylation deficiencyAR1517
GJA5Progressive familial heart block, Atrial standstill, digenic, Atrial fibrillationAD/Digenic735
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
KCNA5Atrial fibrillationAD424
KCND3Brugada syndromeAD615
KCNE1Long QT syndrome, Jervell and Lange-Nielsen syndromeAD/AR/Digenic646
KCNE2Long QT syndrome, Atrial fibrillation, familialAD623
KCNE3Brugada syndromeAD17
KCNH2Short QT syndrome, Long QT syndromeAD275897
KCNJ2Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillationAD3483
KCNJ5Long QT syndrome, Hyperaldosteronism, familialAD712
KCNQ1Short QT syndrome, Long QT syndrome, Atrial fibrillation, Jervell and Lange-Nielsen syndromeAD/AR/Digenic237590
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), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/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
NKX2-5Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defectAD41101
NOS1APRomano-Ward syndromeAD/AR7
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 syndrome, MetachondromatosisAD122129
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
SCN1BAtrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plusAD1118
SCN3BAtrial fibrillation, familial, Brugada syndromeAD47
SCN5AHeart block, nonprogressive, Heart block, progressive, Long QT syndrome, Ventricular fibrillation, Atrial fibrillation, Sick sinus syndrome, Brugada syndrome, Dilated cardiomyopathy (DCM)AD/AR/Digenic193795
SCN10AParoxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, Primary erythermalgia, Sodium channelopathy-related small fiber neuropathy, Brugada syndromeAD/AR248
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
TBX5Holt-Oram syndromeAD32119
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
TRDNVentricular tachycardia, catecholaminergic polymorphicAR36
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdleAR715
TRPM4Progressive familial heart blockAD421
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.

GeneGenomic location HG19HGVSRefSeqRS-numberCommentReference
KCNQ1Chr11:2484803rs2074238

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-10Disease
Q24.8Brugada syndrome
I42.5RCM
I42.9Cardiomyopathy NAS
Q87.1Noonan syndrome
I49.9Catecholaminergic polymorphic ventricular tachycardia (CPVT)
I46.2Cardiac arrest underlying cardiac condition
I46.9Cardiac arrest cause unspecified
I45.81Long QT syndrome
I42.2Hypertrophic cardiomyopathy (HCM)
I42.0Dilated cardiomyopathy (DCM)
I42.8Arrhythmogenic right ventricular cardiomyopathy (ARVC)
I42.8Left ventricular non-compaction cardiomyopathy (LVNC)
I49.9Short 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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