Whole exome sequencing–XL (WES-XL) is a comprehensive, phenotype-driven exome analysis using the patient’s genomic data. Identified variants may be confirmed via Sanger sequencing or qPCR if needed as determined by the specific variant called. The standard WES-XL includes a trio analysis (patient plus parents). Samples from can be submitted in place of a parental specimen or in addition to parental samples. (Please note that an additional cost may incur for submitting more than 2 family members in addition to the proband.) Singleton and duos will also be accepted if appropriate family members samples are not available. A separate consent and family studies form must be completed for each familial sample submitted in addition to the patient. Please contact the lab prior to sending a sibling sample.
Secondary findings will only be reported for the patient initially, and only mutations or variants that are expected to harm the function of the gene will be reported. Only SNV analysis will be performed for secondary findings. The patient and/or patient’s guardian has the option to receive or not to receive the information about the patient’s changes that are considered secondary findings. If the lab does not have clear consent to report secondary findings, this will not be included in the final report. If a secondary finding is identified, parents may then elect to have the finding confirmed at no additional charge.
