Rapid Trio Whole Exome Sequencing

Clinical Use

Use

Trio Whole Exome Sequencing (WES) is an advanced genetic test aimed at identifying DNA changes related to medical concerns, especially for critically ill patients with undiagnosed genetic syndromes. This approach analyzes thousands of genes' exons simultaneously, which are the functionally significant regions responsible for protein coding. Errors in these exons account for most genetic disorders, making WES a comprehensive method for identifying the genetic causes of diseases. By providing a consensus sequence of a patient's DNA, WES can pinpoint variations and correlate them with medical conditions, thus aiding in accurate diagnosis and treatment.

Special Instructions

If a qualified variant is found, RNA sequencing can provide additional functional insights. To initiate RNAseq after WES, select it during order placement. Only blood samples can be used for RNAseq, any additional samples required will prompt client service outreach.

Limitations

The turnaround time (TAT) is dependent on sample type and starts only once all familial samples are collected. Sample quality significantly impacts the ability to meet TAT. The interpretation of genetic variations hinges on current understanding, which can evolve over time. Possible diagnostic errors include sample mix-ups, interfering genetic variants, incorrect parentage assignments, among others.

Test Details

New York Approved