CeGaT Exome Xtra

CeGaT has launched the CeGaT Exome Xtra test, which the firm says increases the diagnostic yield compared to a standard exome test. Besides coding sequences, it includes all medically relevant regions throughout the genome, such as pathogenic and likely pathogenic intronic variants, disease-associated transcripts, cryptic exons, as well as the mitochondrial genome. In addition, the data analysis considers variants in genes with reduced penetrance, variable expressivity, imprinting effects, and SNV/CNV combinations.