Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder and Congenital Anomalies

Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder and Congenital Anomalies

Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder and Congenital Anomalies

Genetic Testing, Including Chromosomal Microarray Analysis and Next-Generation Sequencing Panels, for the Evaluation of Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and/or Congenital Anomalies - 8/1/16

Chromosomal microarray analysis (CMA) testing has been proposed for detection of genetic imbalances in infants or children with characteristics of developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), and/or congenital anomalies. CMA increases the diagnostic yield over karyotyping in this population and may impact clinical management decisions. Next-generation seq...

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report

Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...

Medical Policy Manual Topic: Chromosomal Microarray Analysis (CMA) and Next-generation Sequencing Panels for the Genetic Evaluation of Patients with Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, or Congenital Anomalies Date of Origin: August 2010 Section: Genetic Testing

PLEASE NOTE: Contracts exclude from coverage, among other things, services or procedures that are considered investigational or cosmetic. Providers may bill members for services or procedures that are considered investigational or cosmetic. Providers are encouraged to inform members before rendering such services that the members are likely to be financially responsible for the cost of these se...