SUDD inCode® is a genetic diagnostic test for familial heart diseases (cardiomyopathies, channelopathies and aortopathies) related with sudden cardiac death syndrome.
Such diseases are from monogenic aetiology. Beginning with a clinical suspicion based on several detected symptoms, the genetic diagnosis is a tool that facilitates establishment of a definite diagnosis in the event a causal variant of the disease is identified.
There is a wide range of familial heart diseases related with sudden death, according on the type of heart defect they present. Thus, they are usually classified as:
- Arrhythmogenic diseases if they cause arrhythmia.
- Structural diseases if they have anatomical defects in the myocardium.
Other types of genetic conditions, called syndromes, can also have an impact on the heart and lead to sudden death. A syndrome is a group of signs and symptoms that occur together and characterize a particular condition.
Genes/variants analysed and technology
SUDD inCode® enables a comprehensive study of familial heart diseases based on the analysis of gene panels by means of Next Generation Sequencing or NGS technology.
These gene panels have been designed according to the type of the different diseases:
- Structural Disease panel: 55 genes
- Dilated Cardiomyopathy subpanel (DCM): 38 genes
- Hypertrophic Cardiomyopathy subpanel (HCM): 34 genes
- Arrhythmogenic Disease panel:
- Subpanel I: 36 genes
- Subpanel II: 33 genes
- Panel for Aortic Vascular Disease (TAAD – Marfan): 13 genes
- Rasopathies panel: 16 genes
- Familial Heart Disease panel: 83 genes
- Extended Familial Heart Disease panel: 121 genes
- Global panel: 147 genes
- Patients with a clinical suspicion of familial heart disease
- Patients resuscitated following sudden cardiac death
- In case of negative autopsy (death without an established cause)
- Relatives of patients with a familial heart disease and a positive genetic study (familial cascade screening).
SUDD inCode® guarantees the highest quality standards, with sensibility and specificity above 99%.
The gene panels have been designed through an exhaustive process based on the recommendations of clinical guidelines and consensus, selecting those genes that have shown causality with relation to the phenotypes studied, or are highly suspicious of causing the pathology, or are less frequent but with a proven causality.
Numerous scientific articles published in prestigious national and international journals have been written about SUDD inCode®:
- Campuzano O et al. “Molecular autopsy in a cohort of infants died suddenly at rest”. Forensic Sci Int Genet 2018 Nov;37:54-63
- Coll M et al. “Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients”. PLoS One 2018 Jul;13(7):e200756
- Mates J et al. “Sudden arrhythmic death during exercise: A post-mortem genetic analysis”. Sports Med 2017 Oct;47(10):2101-2115
- D’Ovidio C et al. “Sudden death due to cathecolaminergic polymorphic ventricular tachycardia following negative stress-test outcome: Genetics and clinical implications”. Forensic Sci Med Pathol 2017 Jun;13(2):217-225
- Bosch C et al. “A novel variant in RyR2 causes familiar cathecholaminergic polymorphic ventricular tachycardia”. Forensic Sci Int 2017 Jan;270:173-177
- Sanchez O et al. “Natural and undetermined sudden death: Value of post-mortem genetic investigation.” PLoS One 2016 Dec 8;11(12):e0167358
- Toro R et al. “Familial dilated cardiomyopathy caused by a novel frameshift in the BAG3 gene”. PLoS one 2016 Jul 8;11(7):e0158730
- Campuzano O et al. “Rare Titin (TTN) variants in diseases associated with sudden cardiac death”. Int J Mol Sci 2015 Oct 25;16(10):25773-87
- Campuzano O et al. “Identification of genetic alterations, as causative genetic defects in Long QT Syndrome, using next generation sequencing technology”. PLoS One 2014 Dec 10;9(2):e114894
- Campuzano O et al. “Post-mortem genetic analysis in juvenile cases of sudden cardiac death”. Forensic Sci Int 2014 Dec;245:30-7.