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Abstract

April - June 2022 | Vol. 15 | Issue 2 | 19-20
Advancements in Genomic Diagnoses
Arya Shambhavi
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
Address for Correspondence Email: aryashambhavi.gc@gmail.com
 
Abstract
The etiological diagnosis of sudden death is important for cascade testing of the relatives and preventive actions in individuals identified to be susceptible to sudden death. Molecular autopsy by next-generation sequencing (NGS) of the patients where detailed autopsy and histology has failed to identify the cause of death can be useful. With this objective this study investigated the genetic etiology of sudden cardiac death (SCD) among victims (age 1 year-50 years). Patients with acute drug abuse or myocardial infarction were excluded. NGS-based cardio panel focusing on genes associated with cardiac channelopathies and cardiomyopathies was used to study 56 deceased victims. Fifty-three rare protein-altering variants in 32 different genes were identified out of the 93 genes investigated. Among them, 17 variants were identified in genes with strong disease association while another 36 variants were identified in genes with low disease association. Most of the variants (51 out of 53 variants) found in this study were variants of uncertain significance (VUS) owing to lack of appropriate medical records and family history. VUS cannot be used for screening family members as this may lead to unnecessary anxiety and interventions. Seven cases had potentially actionable variants (two pathogenic and five potentially pathogenic). The large number of VUS detected by current data suggests the need for multidisciplinary team for analysis and guidelines for forensic NGS-based testing.
 
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