The lab analyst performs the technical lab test using low–pass whole genome sequencing, which uses high–throughput next generation sequencing (NGS) technology rather than older technologies such as comparative genomic hybridization (CGH) microarray. The test evaluates the entire genome for changes such as copy–number variants (CNVs), which is an increase or decrease in the number of copies of a gene sequence, and long sequences of homozygous DNA, which may indicate genetic changes associated with developmental delays or disabilities.
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