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August 15, 2026Annals of Indian Academy of NeurologyOpen Access

An Integrated Whole-Genome Sequencing and In-House Targeted Testing Strategy Enhances Comprehensive Mutation Detection in Neurofibromatosis Type 1

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Authors

RARekha AaronChristian Medical College, VelloreKAKushagra AgarwalChristian Medical College, VelloreACAaron ChaplaChristian Medical College, Vellore

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Overview

Prospective cohort study demonstrates enhanced mutation detection using targeted testing and whole-genome sequencing in neurofibromatosis type 1, highlighting utility for unresolved cases.

Key Points

  • To evaluate the efficacy of an integrated testing strategy combining targeted sequencing, MLPA, and whole-genome sequencing for comprehensive NF1 variant detection.
  • Prospective cohort study evaluating 103 Indian cases with neurofibromatosis type 1.
  • Performed in-house targeted next-generation sequencing, multiplex ligation-dependent probe amplification (MLPA), and whole-genome sequencing on unresolved cases.
  • In-house targeted testing identified pathogenic or likely pathogenic NF1 variants in 93% of cases.
  • MLPA identified large deletions in 6 cases, and whole-genome sequencing identified causative variants in 2 previously unresolved cases (~2%).

Cite This Study

Aaron et al. (2026) studied this question.

synapsesocial.com/papers/6a8019bb75c2e31742c85dfdhttps://doi.org/10.4103/aian.aian_172_26
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype2024 · 5 citations
  2. 2Neurodevelopmental Comorbidities and Novel Population-based Mutations in Ethnic Patients with Neurofibromatosis Type 12025
  3. 3Toward More Accurate Diagnosis in Neurofibromatosis Type 1: A Dual-Level Analysis of Clinical and Molecular Data with Exploratory Genotype–Phenotype Correlations in a Romanian Cohort2026
  4. 4PATH-81. DNA sequencing identifies NF1 variant classes associated with malignant peripheral nerve sheath tumor (MPNST) formation in neurofibromatosis type I2025
  5. 5Comprehensive Analysis of Genotype-Phenotype Correlations and Pathogenic Mechanisms in Neurofibromatosis Type 12026