Sudd inCode® is a diagnostic test for familial heart diseases related with sudden cardiac death syndrome.
Such pathologies are monogenic. Beginning with clinical suspicion based on a number of identified 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 can be different types of family heart diseases related with sudden death, depending on the defects in heart activity that they create. They are usually classified as:
- Arrhythmogenic diseases, if they cause arrhythmia, or alterations of the heart rhythm.
- Structural diseases, if the myocardium suffers anatomical defects.
Other types of genetic-origin alterations, called syndromes, can have repercussions at the cardiac level and lead to sudden death.
GENES/VARIANTS ANALYZED AND ANALYSIS TECHNIQUE
Sudd inCode® enables physicians to perform a broad study of familial heart diseases, based on Next Generation Sequencing technology applied to gene panels that are designed according to the type of disease to study.
Structural disease panel: 55 genes
Dilated cardiomyopathy subpanel: 38 genes
Hypertrophic cardiomyopathy subpanel: 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 diseases panel: 86 genes
Extended familial heart diseases panel: 121 genes
PROFILE OF PATIENTS
- Patients with clinical suspicion familial heart disease
- Patients resuscitated following sudden cardiac death
- In case of negative autopsy (death without established cause)
Sudd inCode® guarantees the highest quality standards, with sensibility and specificity above 99%. The analytical panels have been designed through an exhaustive process, based on the recommendations of clinical guidelines and consensus, and a selection of genes that have shown causality with relation to the phenotypes studied; either highly suspicious of causing the pathology, or less frequent but with a demonstrated causality.
- Campuzano O et al. Molecular autopsy in a cohort of infants died suddenly at rest. Forensic Sci Int Genet 2018 Nov;37:54-63
- Mates J et al. Sudden arrhythmic death during exercise: A post-mortem genetic analysis. Sports Med 2017 Oct;47(10):2101-2115
- Sanchez O et al. Natural and undetermined sudden death: Value of post-mortem genetic investigation. PLoS ONE 2016;11/12):e0167358
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