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Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next—Generation Sequencing

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Abstract

Chromosomal microarray and Next-generation sequencing are two widely used genomic tests that have improved the diagnosis of children with a genetic condition. Chromosomal microarray has become a first-tier test in evaluating children with intellectual disability, multiple malformations and autism due to its higher yield and resolution. Next generation sequencing, that includes targeted panel testing, exome sequencing and whole genome sequencing ends diagnostic odyssey in 25–30% of unselected children with rare monogenic syndromes, especially when the condition is genetically heterogeneous. This article provides a review of these genomic tests for pediatricians.

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Authors and Affiliations

  1. Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576 104, India

    Dhanya Lakshmi Narayanan & Katta Mohan Girisha

Authors
  1. Dhanya Lakshmi Narayanan
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  2. Katta Mohan Girisha
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Contributions

DLN: substantial contributions to design and draft of the work; GKM: substantial contributions to the conception and design of the work, drafting and revising it critically for important intellectual content. Both approve the final version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

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Correspondence to Katta Mohan Girisha.

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Narayanan, D.L., Girisha, K.M. Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next—Generation Sequencing. Indian Pediatr 57, 549–554 (2020). https://doi.org/10.1007/s13312-020-1853-3

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  • DOI: https://doi.org/10.1007/s13312-020-1853-3

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