ArticleJournal of neurology2019
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
Article in Journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- BiallelicJournal of neuromuscular diseases · 2026Article
- Expanding the phenotypic spectrum of LAMA2-related disorders: Axonal neuropathy in the absence of muscular dystrophy.Journal of human genetics · 2026Article
- Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.Journal of human genetics · 2025Article
- The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa.European journal of human genetics : EJHG · 2025Article
- A Novel Loss of Function Variant inMolecular syndromology · 2025Article
- Article
- Revolutionizing Personalized Medicine: Synergy with Multi-Omics Data Generation, Main Hurdles, and Future Perspectives.Biomedicines · 2024Review
- Enhancing Transcriptomic Insights into Neurological Disorders Through the Comparative Analysis of Shapley Values.Current issues in molecular biology · 2024Article
- Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa.European journal of human genetics : EJHG · 2024Article
- Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Brain : a journal of neurology · 2024Article
- Challenges and opportunities for discovering the biology of rare genetic diseases of the brain.Journal of biosciences · 2024Review
- Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.Genes · 2023Review
- Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.Scientific reports · 2023Article
- Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.Neurology. Genetics · 2023Article
- Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.Neurogenetics · 2022Article
- Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.Human genetics · 2022Observational
- Validation of whole genome sequencing from dried blood spots.BMC medical genomics · 2021Article
- Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing.Frontiers in genetics · 2021Article
- First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features.The application of clinical genetics · 2021Article
- A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation.Frontiers in genetics · 2020Review
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42 authors.
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Abstract
backgroundNeurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge.
methodsWe sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform.
resultsWe were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function.
conclusionIn our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner.
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