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

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چکیده

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 sequencing (NGS) panel testing allows for simultaneous analysis of a large number of genes and has been proposed as a way to identify single-gene causes of syndromes that have autism as a significant clinical feature, in patients with normal CMA testing.

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منابع مشابه

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...

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12.04.59 Genetic Testing, Including Chromosomal Microarray (CMA) Analysis and Next-Generation Sequencing (NGS) Panels, for the Evaluation of Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and/or Congenital Anomalies

Chromosomal microarray analysis (CMA) may be considered medically necessary as first-line testing in the initial postnatal evaluation of individuals with any one of the following:  Apparently nonsyndromic developmental delay/intellectual disabilityOR  Autism spectrum disorder OR  Two or more congenital anomalies not specific to a well-delineated genetic syndrome Chromosomal microarray analys...

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Genetic Testing, Including Chromosomal Microarray Analysis and Next-Generation Sequencing Panels, for Prenatal Evaluation and the Evaluation of Children with Developmental Delay-Intellectual Disability or Autism Spectrum Disorder

SM Members Testing in children Chromosomal microarray analysis may be MEDICALLY NECESSARY for diagnosing a genetic abnormality in children with apparent nonsyndromic cognitive developmental delay/intellectual disability (DD/ID) or autism spectrum disorder (ASD) according to accepted Diagnostic and Statistical Manual of Mental Disorders-IV criteria when all of the following conditions are met (s...

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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...

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Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean pa...

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تاریخ انتشار 2016