Genomic testing for diagnosis of genetic disorders in children: Chromosomal microarray and next–generation sequencing

Lakshmi, Dhanya N and Girisha, KM (2020) Genomic testing for diagnosis of genetic disorders in children: Chromosomal microarray and next–generation sequencing. Indian Pediatrics, 57. pp. 549-557. ISSN 0019-6061

[img] PDF
RMS - 00009253.pdf - Published Version
Restricted to Registered users only

Download (1MB) | Request a copy

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.

Item Type: Article
Uncontrolled Keywords: Chromosomal disorders; exome sequencing; whole genome sequencing.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 22 Sep 2020 06:21
Last Modified: 22 Sep 2020 06:21
URI: http://eprints.manipal.edu/id/eprint/155683

Actions (login required)

View Item View Item