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

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.

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

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.