Sudden Cardiac Death Precision Panel
Sudden Cardiac Death (SCD) is an unexpected death due to cardiac causes that takes place in a short time period in a person with known or unknown underlying cardiac disease.
Overview
- Sudden Cardiac Death (SCD) is an unexpected death due to cardiac causes that takes place in a short time period in a person with known or unknown underlying cardiac disease. It is an important public-health problem with multiple etiologies, risk factors and changing temporal trends. The overwhelming sadness suffered by families is heightened by the risk many of these deaths confer upon surviving relatives. For those with known cardiac disease, disease-specific therapy and risk stratification are key to reducing sudden cardiac death. Uncovering a definitive cause of death can help relieve the uncertainty as a first step in screening surviving relatives. Increasing knowledge about the molecular mechanisms and genetic drivers of malignant arrythmias have become a key component in achieving a risk stratification system to optimize and personalize patient care.
- The Igenomix Sudden Cardiac Death Precision Panel serves as a diagnostic and screening tool ultimately leading to a preventive approach of the disease by risk stratification. 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 Sudden Cardiac Death Precision Panel is indicated in those cases where there are a series of risk factors that could precipitate SCD including:
- Family history of premature coronary artery disease
- Family history of cardiomyopathy
- Family history of malignant arrythmia
- Family history of SCD
- Personal history of cardiovascular risk factors
- Smoking
- Dyslipidemia
- Hyeprtension
- Diabetes
- Obesity
- Sedentary lifestyle
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis.
- Early initiation of treatment in case risk factors are present (smoking, diabetes, dyslipidemia, hyerptension etc)
- Early prevention with a multidisciplinary team in the form of preventive ICD placement, pacemaker, pharmacologic therapy, or interventional procedures.
- 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** |
| ABCA12 | Ichthyosis Congenita |
AR |
100 |
151 of 153 |
| ABCC6 | Generalized Arterial Calcification Of Infancy |
AD,AR |
99 |
346 of 349 |
| ABCG5 | Homozygous Familial Hypercholesterolemia |
99.81 |
57 of 57 | |
| ABCG8 | Homozygous Familial Hypercholesterolemia |
AR,MU,P |
100 |
64 of 64 |
| ACAD9 | Familial Acyl-CoA Dehydrogenase Deficiency |
AR |
100 |
62 of 62 |
| ACADL | Long Chain Acyl-CoA Dehydrogenase Deficiency |
|
100 |
1 of 1 |
| ACADVL | Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl-CoA Dehydrogenase Deficiency |
AR |
100 |
329 of 329 |
| AKAP10 | Cardiac Conduction Defect, Sudden Cardiac Death |
AD |
92.93 |
1 of 1 |
| AKAP9 | Long Qt Syndrome, Brugada Syndrome, Romano-Ward Syndrome |
AD |
98.34 |
43 of 46 |
| AKT1 | Proteus Syndrome, Cowden Syndrome, Meningioma |
AD |
100 |
6 of 6 |
| ALG10B | Long Qt Syndrome |
AD |
99.97 |
2 of 2 |
| ANK2 | Cardiac Arrhythmia, Ankyrin-b-Related, Romano-ward Syndrome |
AD |
99.98 |
130 of 130 |
| APOB | Familial Hypobetalipoproteinemia, Homozygous Familial Hypercholesterolemia |
AD,AR |
99.62 |
369 of 375 |
| BAZ1B | Williams Syndrome |
99.05 |
5 of 5 | |
| CACNA1C | Brugada Syndrome, Timothy Syndrome, Romano-ward Syndrome |
AD |
99.8 |
85 of 85 |
| CACNA2D1 | Brugada Syndrome, Familial Short Qt Syndrome |
99.96 |
12 of 12 | |
| 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 Cardiomyopathy |
AD,AR |
100 |
39 of 40 |
| CAV3 | Familial Hypertrophic Cardiomyopathy, Long Qt Syndrome, Rippling Muscle Disease, Romano-Ward Syndrome |
AD |
100 |
50 of 50 |
| CLCF1 | Cold-Induced Sweating Syndrome, Crisponi Syndrome |
AR |
100 |
4 of 4 |
| CLIP2 | Williams Syndrome |
99.99 |
1 of 1 | |
| CPT1A | Carnitine Palmitoyltransferase I Deficiency |
AR |
100 |
50 of 50 |
| CRLF1 | Cold-Induced Sweating Syndrome, Crisponi Syndrome |
AR |
91.53 |
31 of 33 |
| CSRP3 | Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy |
AD |
100 |
36 of 36 |
| DES | Dilated Cardiomyopathy, Myofibrillar Myopathy |
AD,AR |
99.97 |
133 of 134 |
| DNAJC19 | 3-a Methylglutaconic Aciduria Type V, Dilated Cardiomyopathy With Ataxia |
AR |
100 |
6 of 6 |
| DPP6 | Familial Paroxismal 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, Carvajal Syndrome |
AD,AR |
99.91 |
366 of 369 |
| DTNA | Left Ventricular Noncompaction |
AD |
97 |
10 of 10 |
| ELN | Supravalvular Aortic Stenosis, Williams-Beuren Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection, Williams Syndrome |
AD |
99.99 |
95 of 96 |
| EMD | X-linked Emery-Dreifuss Muscular Dystrophy |
X,XR,G |
99.92 |
NA of NA |
| ENPP1 | Generalized Arterial Calcification Of Infancy, Non Insulin-Dependent Diabetes Mellitus, Obesity |
AD,AR,MU,P |
96.59 |
73 of 75 |
| EYA4 | Dilated Cardiomyopathy |
AD |
100 |
32 of 32 |
| FHL1 | X-Linked Reducing Body Myopathy, X-Linked Emery-Dreifuss Muscular Dystrophy |
X,XR,XD,G |
99.98 |
NA of NA |
| GNAI2 | Familial Ventricular Tachycardia |
AD |
100 |
3 of 3 |
| GPD1L | Brugada Syndrome |
AD |
100 |
14 of 14 |
| GTF2I | Williams Syndrome |
63.79 |
NA of NA | |
| GTF2IRD1 | Williams Syndrome |
99.98 |
1 of 1 | |
| HLA-B | Takayasu Arteritis |
MU |
99.55 |
1 of 1 |
| IKZF1 | Common Variable Immunodeficiency |
AD |
99.98 |
43 of 43 |
| JUP | Familial Arrhythmogenic Right Ventricular Dysplasia |
AD,AR |
100 |
56 of 56 |
| 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 |
| KCNH2 | Long QT Syndrome, Short QT Syndrome, Romano-Ward Syndrome |
AD |
98.69 |
908 of 930 |
| KCNJ2 | Andersen Cardiodysrhythmic Periodic Paralysis , Familial Atrial Fibrillation, Short QT Syndrome |
AD |
100 |
93 of 93 |
| KCNJ5 | Long QT Syndrome, Romano-Ward Syndrome |
AD |
99.52 |
21 of 21 |
| 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 |
| LDB3 | Dilated Cardiomyopathy With Or Without Left Ventricular Noncompaction Myofibrillar Myopathy, Familial Isolated Dilated Cardiomyopathy |
AD |
100 |
60 of 60 |
| LDLR | Homozygous Familial Hypercholesterolemia |
AD |
99.89 |
1921 of 1996 |
| LDLRAP1 | Familial Hypercholesterolemia |
AR |
91.83 |
18 of 27 |
| LIMK1 | Williams Syndrome |
100 |
2 of 2 | |
| LMNA | Dilated Cardiomyopathy, Emery-Dreifuss Muscular Dystrophy, Familial Dilated Cardiomyopathy With Conduction Defect Due To LMNA Mutation |
AD,AR |
100 |
619 of 620 |
| LRP6 | Autosomal Dominant Coronary Artery Disease |
AD |
100 |
44 of 44 |
| MYH7 | Dilated Cardiomyopathy, Left Ventricular Noncompaction, Familial Hypertrophic Cardiomyopathy, Familial Isolated Dilated Cardiomyopathy |
AD,AR |
99.95 |
1053 of 1054 |
| MYL2 | Familial Hypertrophic Cardiomyopathy |
AD |
100 |
67 of 67 |
| MYL3 | Familial Hypertrophic Cardiomyopathy |
AD,AR |
100 |
42 of 42 |
| NOS1AP | Romano-Ward Syndrome |
100 |
4 of 4 | |
| PCSK9 | Familial Hypercholesterolemia |
AD |
100 |
96 of 98 |
| PKP2 | Familial Arrhythmogenic Right Ventricular Dysplasia, Brugada Syndrome |
AD |
100 |
306 of 307 |
| 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 |
| PTEN | Bannayan-Riley- Ruvalcaba Syndrome, Lhermitte-Duclos Disease, Proteus Syndrome |
AD |
99.97 |
609 of 629 |
| PTPN22 | Insulin-Dependent Diabetes Mellitus, Rheumatoid Arthritis, Systemic Lupus Erythematosus, Granulomatosis With Polyangiitis, Vogt-Koyanagi-Harada Disease |
AD |
99.67 |
5 of 5 |
| RBM20 | Familial Isolated Dilated Cardiomyopathy |
AD |
96.83 |
73 of 75 |
| RFC2 | Williams Syndrome |
|
100 |
3 of 3 |
| RYR2 | Familial Arrhythmogenic Right Ventricular Dysplasia, Catecholaminergic Polymorphic Ventricular Tachycardia With Or Without Atrial Dysfunction |
AD |
99.2 |
466 of 472 |
| SCN10A | Brugada Syndrome, Romano-Ward Syndrome |
AD |
99.89 |
96 of 96 |
| 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 Ia, Sick Sinus Syndrome, Sudden Infant Death Syndrome, Ventricular Fibrillation During Myocardial Infarction, Romano-Ward Syndrome |
AD,AR,MU |
99.45 |
929 of 942 |
| SNTA1 | Long QT Syndrome, Romano-Ward Syndrome |
AD |
95.66 |
18 of 18 |
| SYNE1 | Emery-Dreifuss Muscular Dystrophy |
AD,AR |
99.99 |
193 of 193 |
| SYNE2 | Emery-Dreifuss Muscular Dystrophy |
AD |
99.94 |
12 of 12 |
| TBL2 | Williams Syndrome |
96.14 |
NA of NA | |
| TECRL | Catecholaminergic Polymorphic Ventricular Tachycardia |
AR |
99.48 |
4 of 4 |
| TGFB3 | Familial Arrhythmogenic Right Ventricular Dysplasia, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection |
AD |
100 |
34 of 35 |
| 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 |
| TRDN | Catecholaminergic Polymorphic Ventricular Tachycardia With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
AD,AR |
98.72 |
10 of 12 |
| WAS | Wiskott-Aldrich Syndrome, X-linked Severe Congenital Neutropenia |
X,XR,G |
100 |
NA of NA |
| WIPF1 | Wiskott-Aldrich Syndrome |
AR |
99.79 |
3 of 3 |
* 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
References
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Haïssaguerre, M., Derval, N., Sacher, F., Jesel, L., Deisenhofer, I., & de Roy, L. et al. (2008). Sudden Cardiac Arrest Associated with Early Repolarization. New England Journal Of Medicine, 358(19), 2016-2023. doi: 10.1056/nejmoa071968
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