Whole Exome Sequencing, Reanalysis

Technical Information

The average read depth for whole exome sequnecing is typically greater than 150X. In our experience, greater than 30% of patients have a pathogenic or likely pathogenic finding consistent with the reported phenotype. Reanalysis can be ordered as a separate test for an additional charge.

We recommend further array-based testing to more accurately address the concerns of dosage alterations such as GGC’s cytogenomic microarray – a high resolution, whole genome SNP microarray. Laboratory Directors and Laboratory Genetic Counselors are also available for further consultation regarding the limitations of the NGS and array testing procedures.

Specimen Requirements

• The preferred sample type is 3-4 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test.  Blood and saliva kits are available by request.
• Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
• Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

• The blood specimen should be kept at room temperature and delivered via overnight shipping. 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.
• Extracted DNA should be sent at room temperature via overnight delivery.
• Saliva is stable at room temperature and can be delivered via overnight or ground shipping.