Greenwood Diagnostic Labs’ WES test captures the entire exome with additional coverage for genes with known Mendelian disease associations. The average read depth for each exome is typically greater than 150X. The analysis and curation of variants is driven by the patient’s reported phenotype. Any variants included in the report are confirmed with Sanger sequencing. The standard WES test includes trio analysis with parents. Samples from siblings can be submitted in place of a parental specimen or in addition to parental samples. (Please note there may additional costs for submitting more than 2 family members in addition to the proband.) Singletons and duos will also be accepted if appropriate family member samples are not available. There is no default option for secondary findings. Patients and families must select whether or not to receive this information as part of the analysis. Each sample submitted as part of the WES analysis must be accompanied by a separate consent and requisition form.
Singleton Analysis: 81415 Duo Analysis: 81415, 81416 Trio Analysis: 81415, 81416x2 Reanalysis: 81417