Whole Exome Sequencing (WES)

 

Test info

GGC's 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.

WES Informational Flyer

Detection

In our experience, greater than 30% of patients have a pathogenic or likely pathogenic finding consistent with the reported phenotype.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.

Required Forms

Proband Requisition and Consent Form - English
Family Member Requisition and Consent Form - English
Proband Consent Form - Spanish
Family Member Consent Form - Spanish

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.  Extracted DNA can also be accepted for this test.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 16 weeks
Prenatal testing

If pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

CPT Codes 81415
Cost Institutional Billing and Self-pay are available for this test.  South Carolina insurance and SC Medicaid will also be accepted.  Out-of-state (non-South Carolina) insurance or Medicaid is currently not accepted for Whole Exome Sequencing.

Please contact the laboratory for the institutional and self-pay prices.
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

Find out more