Chromosomal microarray reinterpretation: Applications to pediatric practice

Genomic copy number variations (CNVs), including deletions and duplications, contribute to human phenotypic diversity and disease.1 Detection of CNVs by chromosomal microarray analysis (CMA) has been recommended as a first-line diagnostic test for developmental delay, intellectual disability, autism spectrum disorders, or multiple congenital anomalies since 2010.2,3 Unfortunately, CMA tests are frequently inconclusive and reported as having non-actionable variants of uncertain significance (VUSs).

source https://www.jpeds.com/article/S0022-3476(21)01243-9/fulltext?rss=yes