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 analysis (CMA) is considered investigational when the member has not met at least one of the criteria listed above. Panel testing using next-generation sequencing is considered investigational in all cases of suspected genetic abnormality in children with developmental delay/intellectual disability, autism spectrum disorder, or congenital anomalies. Definitions Malformation: Defects of organs or body parts due to an intrinsically abnormal developmental process. In this process, a structure is not formed, is partially formed, or is formed in an abnormal fashion. Major malformation: A structural defect that has a significant effect on function or social acceptability. These often require surgical repair. Example: ventricular septal defect or a neural tube defect such as meningomyelocele or cleft lip. Minor malformation: A structural abnormality that has minimal effect on function or societal acceptance. They rarely are medically significant or require surgical intervention. Examples: preauricular ear pit or partial syndactyly (fusion) of the second and third toes. Syndrome: A recognizable pattern of multiple malformations. Syndrome diagnoses are often relatively straightforward and common enough to be clinically recognized without specialized testing. Examples include Down syndrome and achondroplasia. However, in the very young, or in the case of syndromes with variable presentation, confident identification may be difficult without additional testing. A 2013 guidelines update from American College of Medical Genetics (ACMG) states that a stepwise or tiered approach to the clinical genetic diagnostic evaluation of autism spectrum disorder is recommended, with the recommendation being for first tier to include fragile X syndrome and chromosomal microarray analysis (CMA). In some cases of CMA, the laboratory performing the test confirms all reported copy number variants with an alternative technology such as fluorescent in situ hybridization analysis. Coding CPT 81228 Cytogenetic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., Bacterial Artificial Chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis) 81229 Cytogenetic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities HCPCS S3870 Comparative genomic hybridization (CGH) microarray testing for developmental delay, autism spectrum disorder and/or mental retardation Description [TOP] Chromosomal microarray analysis …