Additional Information

Our constitutional microarray views the entire genome at a resolution much higher than possible by conventional karyotyping or fluorescence. in situ hybridization. This copy number plus single nucleotide polymorphism (SNP) platform is designed to detect gains and/or losses (copy number changes) and absence of heterozygosity (AOH) or regions of homozygosity (ROH). The array contains ~2.6 million copy number markers, including 743,304 SNP probes. Microarray testing is recommended as 1st tier testing for individuals with intellectual disabilities, autism spectrum disorders, and multiple congenital anomalies by the American College of Medical Genetics & Genomics (ACMGG). Advantages: Evaluates hundreds of different genetic conditions, including aneuploidy. Detects large and small deletions and duplications. Detects regions of homozygosity. Refines breakpoints of unbalanced structural chromosome anomalie.s Limitations: Cannot identify truly balanced chromosomal aberrations, i.e., balanced translocations, inversions, insertions, etc. Cannot detect point mutations or epigenetic changes. Cannot detect genomic imbalances in regions not represented on the microarray. Low-level mosaicism may not be detected. Failure to detect an alteration at a gene locus does not exclude the diagnosis of an associated disorder.