For rare cases where there are typical prenatal features of 22q11.2DS but results are negative for CMA or MLPA, a panel of genes or exome sequencing are commercially available options, specifically considering pathogenic variants in genes TBX1 (22q11.2 deletion region) and CHD7 (at 8q12.2, associated with CHARGE syndrome) [22]. This evidence concerns the gene TBX1 and CHARGE syndrome.