Whole Exome Sequencing

Useful For 

Identifying a molecular diagnosis in patients with a known or suspected genetic disorder, which can allow for:

-Better understanding of the natural history/prognosis

-Targeted management (anticipatory guidance, management changes, specific therapies)

-Predictive testing of at-risk family members

-Testing and exclusion of disease in siblings or other relatives

-Recurrence risk assessment

-Reproductive decision-making

Serving as a second-tier test for patients in whom previous genetic testing for specific syndromes was negative

Providing a potentially cost-effective alternative to establishing a molecular diagnosis compared to multiple independent molecular assays

Genetics Test Information 

This test evaluates patients with suspected genetic disorders for germline mutations within the coding regions of approximately 23,000 genes using next-generation sequencing. This test requires that samples are submitted from the patient, the patient's biological mother, and the patient's biological father (trio analysis).

Highlights

This test uses whole exome sequencing to evaluate patients with a suspected genetic disorder, including diagnostic odyssey patients who have had previous genetic testing that has been uninformative.

Next-generation sequencing is utilized to test for germline mutations in the exome (ie, coding regions of the genome).

This test cannot be performed unless whole blood samples are submitted from the patient and both biological parents.

Medically-actionable secondary findings in the list of genes recommended by the American College of Medical Genetics and Genomics (ACMG)(1) will be reported, unless the patient opts-out of receiving these.

Testing Algorithm 

Whole blood samples must be collected from the patient's biological parents and are required for the analysis of the patient's results. Analysis of these samples is included in the list price for the patient's test and additional charges will not be applied to the parental samples.

In addition to analysis of variants associated with the patient's reported phenotype, analysis for reportable secondary findings in genes included in the American College of Medical Genetics and Genomics' (ACMG) recommendations will be included.(1) Patients may opt-out of receiving these test results.

Complete the Patient Information and Informed Consent forms and send to the laboratory along with the specimen. The forms are located within the Whole Exome Sequencing: Ordering Checklist, Patient Information, and Informed Consent forms in Special Instructions. The completed forms may also be faxed directly to the whole exome sequencing genetic counselors at 507-284-0670.

See Whole Exome Sequencing (WES): Questions and Answers for Providers in Special Instructions for additional information.

Sanger sequencing may be performed for verification of results.