Genomics Precision Diagnostic > Cardiology > Arrythmias Precision Panel

Arrythmias Precision Panel

Arrythmias are a group of conditions in which there is an alteration in the rate or rhythm of the heart. The heart can beat too fast, too slow or with an irregular rhythm. Arrythmias are caused by changes in heart tissue and activity or in the electrical signals that control your heartbeat.

Overview

Arrythmias are a group of conditions in which there is an alteration in the rate or rhythm of the heart. The heart can beat too fast, too slow or with an irregular rhythm. Arrythmias are caused by changes in heart tissue and activity or in the electrical signals that control your heartbeat. These changes can be caused by damage from disease, injury or genetics including cardiac channelopathies. Cardiac channelopathies are a group of inherited conditions that are associated with a defect in the cardiac ion channel function. These problems cause an increased susceptibility to abnormal heart rhythm (dysrhythmia or arrythmia), most often ventricular tachycardia or ventricular fibrillation that ultimately can lead to sudden cardiac death (SCD). The differential diagnosis between ion channel disease and cardiomyopathies can be challenging on occasion as severe ventricular dysrhythmias can manifest in patients with cardiopathies or with structurally normal hearts.
The Igenomix Arrythmia Precision Panel serves as a diagnostic and screening tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.

Indication

The Igenomix Arrythmia Precision Panel is indicated in those cases where there is a clinical suspicion of arrythmia with the following manifestations:
- Shortness of breath
- Palpitations
- Sweating
- Dizziness
- Fainting or nearly fainting
- Fluttering of the chest
- Chest pain
- Light-headedness
- Sudden weakness
- Blurry vision

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis.
Early initiation of treatment with a multidisciplinary team for appropriate preventive ICD placement, pacemaker, pharmacologic therapy, or interventional procedures.
Prevent complications including stroke, heart failure or sudden cardiac death.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCC9*	Familial Atrial Fibrillation, Dilated Cardiomyopathy, Brugada Syndrome	AD	100	51 of 51
*ACTN2*	Dilated Cardiomyopathy With Or Without Left Ventricular Noncompaction, Congenital Myopathy With Structured Cores And Z-line Abnormalities	AD	100	56 of 56
*AKAP9*	Long QT Syndrome, Brugada Syndrome , Romano-Ward Syndrome	AD	98.34	43 of 46
*ANK2*	Cardiac Arrhythmia, Ankyrin-B-Related, Romano-Ward Syndrome	AD	99.98	130 of 130
*ASPH*	Ectopia Lentis, Spontaneous Filtering Blebs, And Craniofacial Dysmorphism	AR	98.45	7 of 8
*BAG3*	Dilated Cardiomyopathy, Myofibrillar Myopathy	AD	100	83 of 85
*CACNA1C*	Brugada Syndrome, Timothy Syndrome, Romano-Ward Syndrome	AD	99.8	85 of 85
*CACNA1D*	Sinoatrial Node Dysfunction And Deafness	AD,AR	100	18 of 18
*CACNA2D1*	Brugada Syndrome, Familial Short QT Syndrome	–	99.96	12 of 12
*CACNB2*	Brugada Syndrome	AD	99.84	32 of 34
*CALM1*	Long QT Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Romano-Ward Syndrome	AD	100	12 of 12
*CALM2*	Long QT Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Romano-Ward Syndrome	AD	98.71	11 of 11
*CALM3*	Long QT Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Romano-Ward Syndrome	AD	100	5 of 5
*CASQ2*	Catecholaminergic Polymorphic Ventricular Tachycardia, With Or Without Atrial Dysfunction And/Or Dilated Cardyomyopathy	AD,AR	100	39 of 40
*CAV3*	Familial Hypertrophic Cardiomyopathy, Long QT Syndrome, Romano-Ward Syndrome	AD	100	50 of 50
*CDH2*	Famililal Arrhythmogenic Right Ventricular Dysplasia	AD	99.98	16 of 16
*DES*	Dilated Cardiomyopathy, Myofibrillar Myopathy	AD,AR	99.97	133 of 134
*DPP6*	Paroxysmal Familial Ventricular Fibrillation	AD	97.03	23 of 28
*DSC2*	Familial Arrhythmogenic Right Ventricular Dysplasia	AD,AR	100	123 of 124
*DSG2*	Familial Arrhythmogenic Right Ventricular Dysplasia, Dilated Cardiomyopathy	AD	99.38	167 of 169
*DSP*	Familial Arrhythmogenic Right Ventricular Dysplasia, Dilated Cardiomyopathy	AD,AR	99.91	366 of 369
*EMD*	X-linked Emery-Dreifuss Muscular Dystrophy	X,XR,G	99.92	NA of NA
*FLNC*	Familial Hypertrophic Cardiomyopathy, Autosomal Dominant Filaminopathy, Familial Isolated Restrictive Cardiomyopathy	AD	100	185 of 186
*GATA4*	Atrioventricular Septal Defect, Testicular Anomalies With Or Without Congenital Heart Disease, Tetralogy Of Fallot, Ventricular Septal Defect, Atrial Septal Defect	AD	94.69	108 of 130
*GATA5*	Congenital Heart Defects, Familial Bicuspid Aortic Valve, Tetralogy Of Fallot	AD,AR	87.02	26 of 32
*GJA5*	Familial Atrial Fibrillation, Tetralogy Of Fallot	AD	99.88	13 of 13
*GPD1L*	Brugada Syndrome	AD	100	14 of 14
*HCN4*	Brugada Syndrome, Sick Sinus Syndrome	AD	98.01	40 of 41
*JUP*	Familial Arrhythmogenic Right Ventricular Dysplasia	AD,AR	100	56 of 56
*KCNA5*	Familial Atrial Fibrillation	AD	99.99	33 of 33
*KCND3*	Brugada Syndrome	AD	100	32 of 32
*KCNE1*	Jervell And Lange-Nielsen Syndrome, Long QT Syndrome, Romano-Ward Syndrome	AD,AR	100	53 of 53
*KCNE2*	Familial Atrial Fibrillation, Long QT Syndrome, Romano-Ward Syndrome	AD	100	23 of 24
*KCNE3*	Brugada Syndrome	AD	100	7 of 7
*KCNE5*	Brugada Syndrome	–	99.66	NA of NA
*KCNH2*	Long QT Syndrome, Short QT Syndrome, Familial Short Qt Syndrome , Romano-Ward Syndrome	AD	98.69	908 of 930
*KCNJ2*	Andersen Cardiodysrhythmic Periodic Paralysis, Familial Atrial Fibrillation, Familial Short Qt Syndrome	AD	100	93 of 93
*KCNJ5*	Long Qt Syndrome, Romano-Ward Syndrome	AD	99.52	21 of 21
*KCNJ8*	Brugada Syndrome	–	100	8 of 8
*KCNQ1*	Familial Atrial Fibrillation, Jervell And Lange-Nielsen Syndrome, Long QT Syndrome, Short QT Syndrome, Romano-Ward Syndrome	AD,AR	93.23	600 of 624
*LAMP2*	Danon Disease, Glycogen Storage Disease Due To LAMP-2 Deficiency	X,XD,G	99.96	NA of NA
*LMNA*	Dilated Cardiomyopathy, Emery-Dreifuss Muscular Dystrophy, Heart-hand Syndrome	AD,AR	100	619 of 620
*MYL4*	Familial Atrial Fibrillation	AD	100	2 of 2
*NKX2-5*	Atrial Septal Defect With Or Without Atrioventricular Conductiondefects, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Hypoplastic Left Heart Syndrome, Congenital Hypothyroidism, Tetralogy Of Fallot, Ventricular Septal Defect, Atrial Septal Defect, Familial Bicuspid Aortic Valve, Familial Progressive Cardiac Conduction Defect, Tetralogy Of Fallot	AD,AR	99.98	112 of 116
*NPPA*	Familial Atrial Fibrillation	AD,AR	99.61	7 of 8
*PKP2*	Familial Arrhythmogenic Right Ventricular Dysplasia, Brugada Syndrome	AD	100	306 of 307
*PLN*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy	AD	100	26 of 33
*PPA2*	Alcohol-Induced Sudden Cardiac Failure, Infantile Sudden Cardiac Failure	AR	99.95	9 of 9
*PRKAG2*	Familial Hypertrophic Cardiomyopathy, Lethal Congenital Glycogen Storage Disease Of Heart, Wolff-Parkinson-White Syndrome	AD	99.98	61 of 61
*RANGRF*	Brugada Syndrome	–	100	5 of 5
*RBM20*	Dilated Cardiomyopathy	AD	96.83	73 of 75
*RYR2*	Familial Arrhythmogenic Right Ventricular Dysplasia, Catecholaminergic Polymorphic Ventricular Tachycardia	AD	99.2	466 of 472
*SCN10A*	Brugada Syndrome, Romano-Ward Syndrome	AD	99.89	96 of 96
*SCN1B*	Familial Atrial Fibrillation, Brugada Syndrome, Familial Progressive Cardiac Conduction Defect	AD,AR	99.67	46 of 48
*SCN2B*	Familial Atrial Fibrillation, Brugada Syndrome	AD	100	8 of 8
*SCN3B*	Brugada Syndrome	AD	100	7 of 7
*SCN4B*	Long QT Syndrome, Romano-Ward Syndrome	AD	100	11 of 11
*SCN5A*	Familial Atrial Fibrillation, Brugada Syndrome, Dilated Cardiomyopathy, Long QT Syndrome, Progressive Familial Heart Block Type 1A, Sick Sinus Syndrome, Sudden Infant Death Syndrome, Ventricular Fibrillation During Myocardial Infarction, Familial Progressive Cardiac Conduction Defect , Romano-Ward Syndrome	AD,AR,MU	99.45	929 of 942
*SLMAP*	Brugada Syndrome		99.8	4 of 4
*SNTA1*	Long QT Syndrome, Romano-Ward Syndrome	AD	95.66	18 of 18
*TMEM43*	Familial Arrhythmogenic Right Ventricular Dysplasia, Emery-Dreifuss Muscular Dystrophy	AD	99.98	26 of 26
*TNNI3*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Familial Restrictive Cardiomyopathy	AD,AR	100	139 of 139
*TNNT2*	Dilate Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Familial Restrictive Cardiomyopathy	AD	100	169 of 169
*TRDN*	Catecholaminergic Polymorphic Ventricular Tachycardia With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy, Romano-Ward Syndrome	AD,AR	98.72	10 of 12
*TRPM4*	Progressive Familial Heart Block, Type IB, Brugada Syndrome, Familial Progressive Cardiac Conduction Defect	AD	99.98	44 of 44
*TTN*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Early-Onset Myopathy With Fatal Cardiomyopathy , Myofibrillar Myopathy	AD,AR	97.93	1153 of 1219

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

See scientific referrals

Priori, S. G., Wilde, A. A., Horie, M., Cho, Y., Behr, E. R., Berul, C., Blom, N., Brugada, J., Chiang, C. E., Huikuri, H., Kannankeril, P., Krahn, A., Leenhardt, A., Moss, A., Schwartz, P. J., Shimizu, W., Tomaselli, G., & Tracy, C. (2013). HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart rhythm, 10(12), 1932–1963. https://doi.org/10.1016/j.hrthm.2013.05.014

Schwartz, P. J., Ackerman, M. J., George, A. L., Jr, & Wilde, A. (2013). Impact of genetics on the clinical management of channelopathies. Journal of the American College of Cardiology, 62(3), 169–180. https://doi.org/10.1016/j.jacc.2013.04.044 

Hershberger, R. E., Givertz, M. M., Ho, C. Y., Judge, D. P., Kantor, P. F., McBride, K. L., Morales, A., Taylor, M., Vatta, M., Ware, S. M., & ACMG Professional Practice and Guidelines Committee (2018). Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics, 20(9), 899–909. https://doi.org/10.1038/s41436-018-0039-z 

Schwartz, P. J., Crotti, L., & Insolia, R. (2012). Long-QT syndrome: from genetics to management. Circulation. Arrhythmia and electrophysiology, 5(4), 868–877. https://doi.org/10.1161/CIRCEP.111.962019

Kline, J., & Costantini, O. (2019). Inherited Cardiac Arrhythmias and Channelopathies. The Medical clinics of North America, 103(5), 809–820. https://doi.org/10.1016/j.mcna.2019.05.001

Monteforte, N., Napolitano, C., & Priori, S. G. (2012). Genetics and arrhythmias: diagnostic and prognostic applications. Revista espanola de cardiologia (English ed.), 65(3), 278–286. https://doi.org/10.1016/j.recesp.2011.10.008

Priori, S. G., & Napolitano, C. (2004). Genetics of cardiac arrhythmias and sudden cardiac death. Annals of the New York Academy of Sciences, 1015, 96–110. https://doi.org/10.1196/annals.1302.008

BROCHURE

Download

Arrythmias Precision Panel

Arrythmias are a group of conditions in which there is an alteration in the rate or rhythm of the heart. The heart can beat too fast, too slow or with an irregular rhythm. Arrythmias are caused by changes in heart tissue and activity or in the electrical signals that control your heartbeat.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

Request Information