Trio Whole Exome Sequencing

Clinical Use

Use

Trio Whole Exome Sequencing (WES) is a complex test designed to identify changes in DNA related to medical concerns. Unlike panel tests that focus on single genes, WES analyzes the exons of thousands of genes simultaneously, including approximately 180,000 exons and 22,000 genes. It is efficient for diagnosing genetic disorders since most DNA errors associated with diseases are found in exons. The sequence comparison with normal population standards helps identify variations linked to medical conditions, interpreted by certified directors and clinicians. Parental samples are essential for a comprehensive understanding of the results, which allows for separate reporting per parental contribution.

Special Instructions

If a qualified variant is found, RNA sequencing (RNAseq) can be performed for further classification. Ordering RNAseq simultaneously allows immediate follow-up if additional information is needed. If another sample for RNAseq is required, Client Services will contact the provider. It’s critical that both parents submit samples for testing, as separate parental reports will be issued.

Limitations

The turnaround time (TAT) is contingent upon sample type and commences upon receipt of all familial samples. Nucleotide change interpretations rely on current knowledge, which may evolve as information about genes becomes available. Potential diagnostic errors include sample mix-ups, variants affecting results, and uncertainties regarding biological parentage. For concerns about results, it is advised to consult a genetic counselor at Baylor Genetics.

Test Details

New York Approved