TY - JOUR
T1 - Genomic Testing for Diagnosis of Genetic Disorders in Children
T2 - Chromosomal Microarray and Next-Generation Sequencing
AU - Narayanan, Dhanya Lakshmi
AU - Girisha, Katta Mohan
PY - 2020/6/15
Y1 - 2020/6/15
N2 - 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.
AB - 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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M3 - Article
C2 - 32562398
AN - SCOPUS:85086752974
SN - 0019-6061
VL - 57
SP - 549
EP - 554
JO - Indian Pediatrics
JF - Indian Pediatrics
IS - 6
ER -