Whole Exome Sequencing is a patient-centric, phenotype-driven analyses designed to examine coding regions and splice junctions for thousands of genes, and report only the variants which are of plausible clinical relevance for your patient. Family history and clinical information is required for all Whole Exome orders. Trio analysis is also available and focuses on the proband of a familial trio (proband and parents). Familial testing can be expanded to include siblings and/or other relatives. Incidental or secondary findings which do not match the provided clinical information are not routinely reported. Inclusion of incidental findings can be requested by submitting a signed Informed Consent for Genetic Testing form. Only pathogenic or likely pathogenic variants identified in the 59 genes recommended by ACMG will be reported as incidental findings. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions of nuclear-encoded genes enriched for clinical significance. Variants occurring in genes which do not match the provided clinical information are not routinely reported. Depending on the case specifics, this analysis may or may not include Sanger sequencing of promoter regions or other non-coding regions in select genes. Similarly, this analysis may or may not include examination of limited genes for repeat expansion(s), performed by repeat-primed PCR (rpPCR) and amplicon length analysis. This analysis does not include any methylation studies or evaluation of mitochondrial-encoded genes. All Whole Exome orders include Del/Dup analysis of phenotypically significant genes. Del/Dup analysis is designed to identify deletions or duplications which are two or more contiguous exons in size. Single exon deletions or duplications are not routinely detected by this assay, however may occasionally be identified. Deletions and duplications are reported at the exon level. Breakpoint locations are not analyzed. Del/Dup analysis will not be performed if a diagnosis or likely diagnosis is identified by sequencing. *Results are considered likely to be diagnostic if a single heterozygous likely pathogenic or pathogenic variant is identified in a gene with autosomal dominant inheritance, X-linked dominant inheritance, or X-linked recessive inheritance (in a genetically male sample). Results are also considered diagnostic/likely diagnostic if two likely pathogenic or pathogenic variants (including homozygosity for a single variant or compound heterozygosity for two variants) are identified in a gene with autosomal recessive inheritance or X-linked recessive inheritance.