ICNC Abstracts, ICNC 2018

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Next Generation Sequencing Based Multi-gene Testing of Over 1000 Indian Patients Affected with Neurological Disorders Revealed an Improved (>40%) Diagnostic Yield
Ashraf U Mannan, Aparna Ganapathy, Avshesh Mishra, Anil Vittal Kanthi, Megha Rani Soni, Irene Patric, Aparajit Sridharan, Sobha George, Lakshmi Mohan, Swathi M Chinnappa, Ankitha Prabhudev, Syama Sreedharan, Thyagarajan Chandrasekaran, Priyanka K, Mukunth Sadagopan, Aswathy S L, Vidya H K, Satish Sankaran, Shanmukh Katragadda, Vamsi Veeramachaneni, Ramesh Hariharan, Vijay Chandru

Last modified: 2018-09-09

Abstract


Introduction: Neurological disorders are clinically heterogenous group of disorders affecting about 30 million people in India. Although the etiology could be highly variable, several of these disorders have well defined genetic cause. A significant proportion of the patients are pediatric, a precise confirmation of diagnosis in a timely manner will be helpful in accurate treatment and medical management. Methods: Next Generation Sequencing (NGS) was performed on 1025 unrelated patients from India with suspected neurological disorders by using Clinical Exome Test, which contains >4600 genes associated with inherited diseases including all major form neurological disorders. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results: Of the 1025 patients assessed, >40% patients were referred for neurodevelopmental disorders while >35% were for neuromuscular disorders. Using NGS, pathogenic (disease-causing) variations were detected in 42% (420/1025) patients. Furthermore, the study led to the identification of novel variants in 55% of the cases. In 9% (95/1000) of the reported cases, very rare variants were identified, which were classified as ‘potentially pathogenic’ by using our robust variant classification platform ‘Strand Ramanujan’. In about 7% of the cases (70/1025), structural variants involving multi-exons to multi-genes deletions/duplications were detected. Conclusion: Multi-gene testing based on NGS is a comprehensive test, which can detect all types of variants including large deletion/duplication. It can be considered as first-line of diagnostic test for neurological disorders that can aid in quicker and definitive diagnosis in a cost effective manner thus enabling early intervention/treatment and medical management strategies.


Keywords


Neurological disorders; Neurodevelopmental Disorders; Neuromuscular Disorder; Epilepsy; Genetic testing; Next Generation Sequencing; Multi-gene panel

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