* TOPIC Chromosomal microarray testing * CLINICAL BOTTOM LINE * Chromosomal microarray testing (CMA) uses molecular probes to detect gains or losses of segments of DNA (copy number variations [CNVs]) or copy neutral changes, such as loss of heterozygosity or uniparental disomy, depending on the type of microarray. * CMA testing offers a significant improvement over routine chromosomal studies in detecting clinically significant chromosomal deletions and duplications that are not visible by routine chromosome studies (Gbanded karyotype).1,2 * Recent guidelines and publications have recommended that CMA should replace G-banded karyotyping for the evaluation of children with autism spectrum disorders, developmental delay/intellectual impairment, and/or multiple congenital anomalies.
GENOMICS IN PA PRACTICE W. ANDREW FAUCETT, MS, CGC; MELISSA
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