The lab analyst performs the technical lab test using comparative genomic hybridization (CGH) microarray, also called chromosomal microarray (CMA), or molecular karyotype. The test is a high–resolution evaluation across the entire genome to detect variation in the number of copies of gene sequences, called copy–number variants (CNVs). This test also evaluates single–nucleotide polymorphisms (SNPs) that may indicate abnormalities such as long sequences of homozygous DNA. The test can identify genetic changes that may be associated with developmental delays or disabilities.
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