Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.

ABSTRACT:

Background

Genetic testing of children with autism spectrum disorder (ASD) is now standard in the clinical setting, with American College of Medical Genetics and Genomics (ACMGG) guidelines recommending microarray for all children, fragile X testing for boys and additional gene sequencing, including PTEN and MECP2, in appropriate patients. Increasingly, testing utilizing high throughput sequencing, including gene panels and whole exome sequencing, are offered as well.

Methods

We performed genetic testing including microarray, fragile X testing and targeted gene panel, consistently sequencing 161 genes associated with ASD risk, in a clinical population of 100 well characterized children with ASD. Frequency of rare variants identified in individual genes was compared with that

SUBMITTER: Kalsner L 

PROVIDER: S-EPMC5902398 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature