Medical Coverage Policy Array Comparative Genomic Hybridization (aCGH) for the Genetic Evaluation of Patients with Developmental Delay/Mental Retardation or Autism Spectrum Disorder - PREAUTH
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چکیده
Description: Chromosomal microarray (CMA) testing has been proposed for detection of genetic imbalances in infants or children with characteristics of developmental delay/intellectual disability or autism spectrum disorder. G-banded karyotyping has for many years been the standard first-line test for this purpose. G-banded karyotyping allows visualization and analysis of chromosomes for chromosomal rearrangements including genomic gains and losses. CMA analysis performs a similar, although non-visual, analysis at a much higher resolution. As a result, CMA has the potential to increase the diagnostic yield in this population and change clinical interpretation in some cases.
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The role of new genetic technology in investigating autism and developmental delay.
Natasha Shur, MD, Shelly Gunn MD, PhD, Lloyd Feit, MD, Albert K. Oh, MD, Yvette Yatchmink, MD, PhD, and Dianne Abuelo, MD introdUCtion Children with developmental delay and dysmorphic features can present diagnostic and therapeutic challenges. One of the newer genetic technologies, known as chromosomal microarray, or array comparative genomic hybridization (aCGH) has revolutionized our diagno...
متن کاملSpecial report: aCGH for the genetic evaluation of patients with developmental delay/mental retardation or autism spectrum disorder.
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متن کاملThe array CGH and its clinical applications.
Array comparative genomic hybridization (aCGH) is a technique enabling high-resolution, genome-wide screening of segmental genomic copy number variations (CNVs). It is becoming an essential and a routine clinical diagnostic tool and is gradually replacing cytogenetic methods. Most of the clinically available aCGH platforms are designed to detect aneuploidies, well-characterized microdeletion/mi...
متن کامل12.04.59 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...
متن کاملAssessment Comparison for cytogenetics array platforms hardware and software for use in identifying copy number aberrations in constitutional disorders July 2010
Copy number variants have been shown to be associated in a significant proportion of cases presenting with developmental delay and a range of other phenotypes including dysmorphic features with or without congenital anomalies, mental retardation, and autistic spectrum disorders. Array Comparative Genomic Hybridization (aCGH) is now the first line test for patients with these disorders in many l...
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