All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, Del/Dup analysis is designed to identify deletions or duplications which are two or more contiguous exons in size. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, most repeat expansions (eg. trinucleotides or hexanucleotides), alternations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). If performed, repeat expansion analysis may not elicit the precise number of repeats present in large expansions. This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.