Whole Genome is a phenotype-driven test for a single individual (proband only). Family history and clinical information is required for all Whole Genome orders. Incidental or secondary findings which do not match the phenotype are not regularly reported. All sequencing technologies have limitations. This analysis is designed to examine noncoding and coding regions. Although 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. This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions and most repeat expansions (eg. trinucleotides or hexanucleotides). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.