Rapid Proband Whole Exome Sequencing

Clinical Use

Use

Proband Whole Exome Sequencing (WES) is designed to identify genetic changes related to medical concerns. It analyzes the exons of thousands of genes simultaneously by sequencing the exome nucleotide by nucleotide. This test is particularly suitable for critically ill patients with undiagnosed genetic syndromes, enabling rapid turnaround for results. It is beneficial for patients with a history of multiple congenital anomalies, autism spectrum disorder, neurodevelopmental disorders, and more. The exome captures regions of DNA that are important for protein production, facilitating the discovery of genetic causes of diseases.

Special Instructions

If a qualified variant is identified through this test, RNA sequencing can be performed to help reclassify that variant. A qualified variant meets specific algorithm criteria implying that RNAseq will yield additional functional data. During ordering, select RNAseq for automatic reflex testing should a qualified variant be found by WES. It’s important to note that RNAseq can only process blood samples, and if an additional sample is needed, Client Services will contact the ordering provider.

Limitations

Sample quality is crucial for meeting turnaround time. Interpretation of nucleotide changes may evolve with new genetic insights. Diagnostic errors could arise from sample mix-ups, variant-related analysis issues, or misassignments of parentage. The accuracy of results depends on the integrity of the sample and laboratory practices.

Test Details

New York Approved