Rapid Quad Whole Exome Sequencing (WES)

Clinical Use

Use

Rapid Quad Whole Exome Sequencing (WES) is a sophisticated test designed to identify genetic changes that may underpin a patient's medical issues. Unlike panel tests focusing on a narrow set of genes, WES examines the exons of thousands of genes simultaneously, targeting the roughly 180,000 functionally vital DNA exons that contain most mutations linked to genetic disorders. This enables clinicians to efficiently diagnose the genetic roots of various conditions, particularly in critically ill patients with complex undiagnosed syndromes. The test not only sequences the patient's exome with high precision but also compares these sequences to established norms, facilitating the identification of significant variations that could inform medical management.

Special Instructions

If a qualified variant is discovered, RNA sequencing (RNAseq) can be performed for further insight into the variant's significance. To activate this additional testing, RNAseq must be selected at the point of order. Please note, RNA sequencing is limited to blood samples, and if more samples are needed, our Client Services team will coordinate with the ordering physician.

Limitations

Sample quality is paramount for timely results; issues may arise from mix-ups or genetic variants that confound analysis. The genetic interpretation is reliant on current knowledge and can evolve as more information is gathered. Misassignments of parentage are potential risks that could complicate diagnoses and should be carefully considered during testing.

Test Details

New York Approved