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 (see below for definitions):  Any indicated biochemical tests for metabolic disease have been performed, and results are non-diagnostic, and  FMR1 gene analysis (for Fragile X), when clinically indicated, is negative, and  In addition to a diagnosis of nonsyndromic DD/ID or ASD, the child has one or more of the following: o two or more major malformations, or o a single major malformation or multiple minor malformations, in an infant or child who is also small-for-dates, or o a single major malformation and multiple minor malformations, and  The results for the genetic testing have the potential to impact the clinical management of the patient, and  Testing is requested after the parent(s) have been engaged in face-to-face genetic counseling with a healthcare professional who has appropriate genetics training and experience. 2 Chromosomal microarray analysis is INVESTIGATIONAL in all other cases of suspected genetic abnormality in children with developmental delay/intellectual disability or autism spectrum disorder. Chromosomal microarray analysis to confirm the diagnosis of a disorder or syndrome that is routinely diagnosed based on clinical evaluation alone is NOT MEDICALLY NECESSARY. (In some cases of CMA analysis, the laboratory performing the test confirms all reported CNVs with an alternative technology such as fluorescence in situ hybridization (FISH) analysis.) Panel testing using next-generation sequencing is INVESTIGATIONAL in all cases of suspected genetic abnormality in children with developmental delay/intellectual disability or autism spectrum disorder. Prenatal testing Chromosomal microarray analysis is INVESTIGATIONAL for prenatal genetic testing. Definitions, from the American College of Medical Genetics Guideline, Evaluation of the Newborn with Single or Multiple Congenital Anomalies:  A malformation refers to abnormal structural development.  A major malformation is a structural defect that has a significant effect on function or social acceptability. Examples: ventricular septal defect or a cleft lip.  A minor malformation is a structural abnormality that has minimal effect on function or societal acceptance. Examples: preauricular ear pit or partial syndactyly (fusion) of the second and third toes.  A syndrome is a recognizable pattern of multiple malformations. Syndrome diagnoses are often relatively straightforward and common enough to be …