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

Dhanya Lakshmi Narayanan, Katta Mohan Girisha

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)549-554
Number of pages6
JournalIndian Pediatrics
Volume57
Issue number6
Publication statusPublished - 15-06-2020

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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