Two infants had a gene panel or single gene tests sent prior to ES which did not identify a genetic diagnosis that was subsequently identified on rapid ES—an infant diagnosed with pathogenic variants in ALG12 (congenital disorder of glycosylation, OMIM 607143) who had negative MPS1 gene testing and an infant with a pathogenic variant in ADNP (OMIM 615873) who had a negative Rubinstein-Taybi syndrome panel. This evidence concerns the gene ADNP and otopalatodigital syndrome type 1.