Rapid Duo Whole Exome Sequencing

Clinical Use

Use

Duo Whole Exome Sequencing (WES) is a highly complex test designed to identify changes in a patient's DNA that are causative or related to their medical concerns. Unlike panel sequencing which focuses on one gene or small groups, WES examines the exons of thousands of genes simultaneously. The exome, about 3% of the human genome, is known to contain most errors leading to genetic disorders. This comprehensive analysis allows for efficient identification of genetic causes for conditions like congenital anomalies, neurodevelopmental disorders, and intellectual disabilities. By comparing the sequenced exome to reference sequences, variations are identified and associated with specific medical conditions.

Special Instructions

If a qualified variant is identified through the rapid duo WES, RNA sequencing (RNAseq) can be performed for a more detailed analysis, enhancing the evaluation of the variant's functional implications. Ordering RNAseq at the same time enables reflex testing if needed. It is important to note that RNAseq can only be executed with blood samples, and if additional specimens are required, Client Services will coordinate with the referring physician.

Limitations

Turnaround time (TAT) varies with sample type and starts only after receipt of all required familial samples. Sample quality is critical; compromised samples may lead to inaccurate results. Genetic variant interpretation may evolve over time as new information arises, potentially leading to diagnostic errors due to mix-ups or incorrect parentage assignments.

Test Details

New York Approved